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Search the entire catalog of SABiosciences products by gene name, key word, or RefSeq number. To learn more about all of these products, visit our Send an Email to Technical Support.

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  2. Use Gene Symbols, key words, or RefSeq Accession Numbers for your gene of interest to find the catalog numbers for the corresponding products. To learn how to get RefSeq Accession Numbers, click here.
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Species:
Gene Name, symbol, description:      RefSeq Number:   
All Product Lines
RT≤ Profilerô PCR Array Pathway-Focused qRT-PCR Based Expression Profiling
RT≤ qPCR Primer Assay Gene-Specific Primers for qRT-PCR, Genome-Wide Availability
Cignalô Pathway Reporter Assays Cell-Based Assays for Rapidly Analyzing Pathway Signaling Activity
miScript miRNA PCR Array miScript miRNA PCR Array
Multi-Analyte Profiler ELISArray Kits Analyze 12 Cytokines or Chemokines Simultaneously Using ELISA
Single Analyte ELISArray Kits High Performance ELISA with the Best Possible Antibodies
EpiTect Methyl II PCR Arrays Pathway-Focused PCR Based DNA Methylation Analysis
EpiTect Methyl II PCR Primer Assay PCR Assays for DNA Methylation Analysis, Genome-Wide Availability
SureSilencingô shRNA Gene-Specific Plasmid-Based RNA Interference, Genome-Wide Availability
EpiTect ChIP qPCR Arrays Pathway-Focused qPCR Based Histone Modifications Analysis
        
Search Result: 4490 gene(s) found matching 'T'
Gene Symbol: T (Human)Other Aliases: TFT
Refseq IDs: NM_003181, NM_001270484
Description: T, brachyury homolog (mouse)
The protein encoded by this gene is an embryonic nuclear transcription factor that binds to a specific DNA element, the palindromic T-site. It binds through a region in its N-terminus, called the T-box, and effects transcription of genes required for mesoderm formation and differentiation. The protein is localized to notochord-derived cells.
Products:
 RT≤ Profilerô PCR Array4 products

Gene Symbol: AARS (Human)Other Aliases: CMT2N
Refseq IDs: NM_001605, XM_005255813
Description: Alanyl-tRNA synthetase
The human alanyl-tRNA synthetase (AARS) belongs to a family of tRNA synthases, of the class II enzymes. Class II tRNA synthases evolved early in evolution and are highly conserved. This is reflected by the fact that 498 of the 968-residue polypeptide human AARS shares 41% identity witht the E.coli protein. tRNA synthases are the enzymes that interpret the RNA code and attach specific aminoacids to the tRNAs that contain the cognate trinucleotide anticodons. They consist of a catalytic domain which interacts with the amino acid acceptor-T psi C helix of the tRNA, and a second domain which interacts with the rest of the tRNA structure.
Products:
 RT≤ Profilerô PCR ArrayInquire

Gene Symbol: AASDHPPT (Human)Other Aliases: AASD-PPT, LYS2, LYS5
Refseq IDs: NM_015423
Description: Aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase
The protein encoded by this gene is similar to Saccharomyces cerevisiae LYS5, which is required for the activation of the alpha-aminoadipate dehydrogenase in the biosynthetic pathway of lysine. Yeast alpha-aminoadipate dehydrogenase converts alpha-biosynthetic-aminoadipate semialdehyde to alpha-aminoadipate. It has been suggested that defects in the human gene result in pipecolic acidemia.
Products:
 RT≤ Profilerô PCR Array1 products

Gene Symbol: AATF (Human)Other Aliases: CHE-1, CHE1, DED
Refseq IDs: NM_012138
Description: Apoptosis antagonizing transcription factor
The protein encoded by this gene was identified on the basis of its interaction with MAP3K12/DLK, a protein kinase known to be involved in the induction of cell apoptosis. This gene product contains a leucine zipper, which is a characteristic motif of transcription factors, and was shown to exhibit strong transactivation activity when fused to Gal4 DNA binding domain. Overexpression of this gene interfered with MAP3K12 induced apoptosis.
Products:
 RT≤ Profilerô PCR Array1 products

Gene Symbol: AATK (Human)Other Aliases: AATYK, AATYK1, LMR1, LMTK1, p35BP
Refseq IDs: NM_001080395, NM_004920, XM_005257847, XM_005257848, XM_005257849, XM_005257850, XM_005257851, XM_005257852, XM_005257853, XM_005257854, XM_005257855, XM_005257856, XM_005257857
Description: Apoptosis-associated tyrosine kinase
Products:
 RT≤ Profilerô PCR ArrayInquire

Gene Symbol: ABCB10 (Human)Other Aliases: EST20237, M-ABC2, MTABC2
Refseq IDs: NM_012089
Description: ATP-binding cassette, sub-family B (MDR/TAP), member 10
The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MDR/TAP subfamily. Members of the MDR/TAP subfamily are involved in multidrug resistance. The function of this mitochondrial protein is unknown.
Products:
 RT≤ Profilerô PCR ArrayInquire

Gene Symbol: ABCB5 (Human)Other Aliases: ABCB5alpha, ABCB5beta, EST422562
Refseq IDs: NM_178559, NM_001163941, NM_001163942, NM_001163993, XM_005249737
Description: ATP-binding cassette, sub-family B (MDR/TAP), member 5
Products:
 RT≤ Profilerô PCR Array2 products

Gene Symbol: ABCB7 (Human)Other Aliases: ABC7, ASAT, Atm1p, EST140535
Refseq IDs: NM_004299, NM_001271696, NM_001271697, NM_001271698, NM_001271699
Description: ATP-binding cassette, sub-family B (MDR/TAP), member 7
The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MDR/TAP subfamily. Members of the MDR/TAP subfamily are involved in multidrug resistance as well as antigen presentation. This gene encodes a half-transporter involved in the transport of heme from the mitochondria to the cytosol. With iron/sulfur cluster precursors as its substrates, this protein may play a role in metal homeostasis. Mutations in this gene have been implicated in X-linked sideroblastic anemia with ataxia.
Products:
 RT≤ Profilerô PCR ArrayInquire

Gene Symbol: ABCB8 (Human)Other Aliases: EST328128, M-ABC1, MABC1
Refseq IDs: NM_007188, NM_001282291, NM_001282292, NM_001282293, XM_005249935, XM_005249936, XM_005249937, XM_005249938, XM_005249939, XM_005249940
Description: ATP-binding cassette, sub-family B (MDR/TAP), member 8
The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MDR/TAP subfamily. Members of the MDR/TAP subfamily are involved in multidrug resistance as well as antigen presentation. The function of this half-transporter has not yet been determined; however, it may involve the compartmentalization and transport of heme, as well as peptides, from the mitochondria to the nucleus and cytosol. This protein may also play a role in the transport of phospholipids into mitochondrial membranes.
Products:
 RT≤ Profilerô PCR ArrayInquire

Gene Symbol: ABCB9 (Human)Other Aliases: EST122234, TAPL
Refseq IDs: NM_019625, NM_019624, NM_203444, NM_001243013, NM_001243014, XM_005253558, XM_005253559
Description: ATP-binding cassette, sub-family B (MDR/TAP), member 9
The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MDR/TAP subfamily. Members of the MDR/TAP subfamily are involved in multidrug resistance as well as antigen presentation. The function of this half-transporter has not yet been determined; however, this protein may play a role in lysosomes. Alternative splicing of this gene results in three known products which are likely to have different substrate specifications.
Products:
 RT≤ Profilerô PCR ArrayInquire

Gene Symbol: ABI3BP (Human)Other Aliases: NESHBP, TARSH
Refseq IDs: NM_015429, XM_005247281, XM_005247282, XM_005247283, XM_005247284, XM_005247285, XM_005247286, XM_005247287, XM_005247288, XM_005247289, XM_005247290, XM_005247291, XM_005247292, XM_005247293, XM_005247294, XM_005247295, XM_005247296, XM_005247297, XM_005247298, XM_005247299, XM_005247300, XM_005247301, XM_005247302, XM_005247303, XM_005247304, XM_005247305, XM_005247306, XM_005247307, XM_005247308, XM_005247309, XM_005247310, XM_005247311, XM_005247312, XM_005247313, XM_005247314, XM_005247315, XM_005247316, XM_005247317, XM_005247318, XM_005247319
Description: ABI family, member 3 (NESH) binding protein
Products:
 RT≤ Profilerô PCR ArrayInquire

Gene Symbol: ABL1 (Human)Other Aliases: ABL, JTK7, abl, bcr, c-ABL, c-ABL1, p150, v-abl
Refseq IDs: NM_005157, NM_007313, XM_005272177
Description: C-abl oncogene 1, non-receptor tyrosine kinase
The ABL1 protooncogene encodes a cytoplasmic and nuclear protein tyrosine kinase that has been implicated in processes of cell differentiation, cell division, cell adhesion, and stress response. Activity of c-Abl protein is negatively regulated by its SH3 domain, and deletion of the SH3 domain turns ABL1 into an oncogene. The t(9;22) translocation results in the head-to-tail fusion of the BCR (MIM:151410) and ABL1 genes present in many cases of chronic myelogeneous leukemia. The DNA-binding activity of the ubiquitously expressed ABL1 tyrosine kinase is regulated by CDC2-mediated phosphorylation, suggesting a cell cycle function for ABL1. The ABL1 gene is expressed as either a 6- or 7-kb mRNA transcript, with alternatively spliced first exons spliced to the common exons 2-11.
Products:
 RT≤ Profilerô PCR Array13 products

Gene Symbol: ABO (Human)Other Aliases: A3GALNT, A3GALT1, GTB, NAGAT
Refseq IDs: NM_020469, XM_005276848, XM_005276849, XM_005276850, XM_005276851, XM_005276852
Description: ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase)
Products:
 RT≤ Profilerô PCR ArrayInquire

Gene Symbol: ABT1 (Human)Other Aliases: hABT1
Refseq IDs: NM_013375
Description: Activator of basal transcription 1
Basal transcription of genes by RNA polymerase II requires the interaction of TATA-binding protein (TBP) with the core region of class II promoters. Studies in mouse suggest that the protein encoded by this gene likely activates basal transcription from class II promoters by interaction with TBP and the class II promoter DNA.
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 RT≤ Profilerô PCR ArrayInquire

Gene Symbol: ACAA1 (Human)Other Aliases: ACAA, PTHIO, THIO
Refseq IDs: NM_001607, NM_001130410, NR_024024
Description: Acetyl-CoA acyltransferase 1
Acetyl-Coenzyme A acyltransferase (ACAA1) is an enzyme operative in the beta-oxidation system of the peroxisomes. Deficiency of this enzyme leads to pseudo-Zellweger syndrome
Products:
 RT≤ Profilerô PCR Array2 products

Gene Symbol: ACAT1 (Human)Other Aliases: ACAT, MAT, T2, THIL
Refseq IDs: NM_000019
Description: Acetyl-CoA acetyltransferase 1
This gene encodes a mitochondrially localized enzyme that catalyzes the reversible formation of acetoacetyl-CoA from two molecules of acetyl-CoA. This gene spans approximately 27 kb and contains 12 exons interrupted by 11 introns. Defects in this gene are associated with the alpha-methylacetoaceticaciduria disorder, an inborn error of isoleucine catabolism characterized by urinary excretion of 2-methyl-3-hydroxybutyric acid, 2-methylacetoacetic acid, tiglylglycine, and butanone.
Products:
 RT≤ Profilerô PCR Array4 products

Gene Symbol: ACD (Human)Other Aliases: PIP1, PTOP, TINT1, TPP1
Refseq IDs: NM_022914, NM_001082486, NM_001082487, XM_005256115
Description: Adrenocortical dysplasia homolog (mouse)
Products:
 RT≤ Profilerô PCR Array1 products

Gene Symbol: ACOT1 (Human)Other Aliases: ACH2, CTE-1, LACH2
Refseq IDs: NM_001037161, XM_005267997
Description: Acyl-CoA thioesterase 1
Products:
 RT≤ Profilerô PCR Array2 products

Gene Symbol: ACOT11 (Human)Other Aliases: BFIT, STARD14, THEA, THEM1
Refseq IDs: NM_147161, NM_015547, XM_005270730, XM_005270731, XM_005270732, XM_005270733, XM_005270734
Description: Acyl-CoA thioesterase 11
This gene encodes a protein with acyl-CoA thioesterase activity towards medium (C12) and long-chain (C18) fatty acyl-CoA substrates. Expression of a similar murine protein in brown adipose tissue is induced by cold exposure and repressed by warmth. Expression of the mouse protein has been associated with obesity, with higher expression found in obesity-resistant mice compared with obesity-prone mice. Alternative splicing results in two transcript variants encoding different isoforms.
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 RT≤ Profilerô PCR ArrayInquire

Gene Symbol: ACOT12 (Human)Other Aliases: CACH-1, Cach, STARD15, THEAL
Refseq IDs: NM_130767, XM_005248438
Description: Acyl-CoA thioesterase 12
Products:
 RT≤ Profilerô PCR Array2 products

Gene Symbol: ACOT13 (Human)Other Aliases: PNAS-27, THEM2
Refseq IDs: NM_018473, NM_001160094
Description: Acyl-CoA thioesterase 13
The protein encoded by this gene is a member of the thioesterase superfamily.
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 RT≤ Profilerô PCR ArrayInquire

Gene Symbol: ACOT2 (Human)Other Aliases: CTE-IA, CTE1A, MTE1, PTE2, PTE2A, ZAP128
Refseq IDs: NM_006821, NR_046028
Description: Acyl-CoA thioesterase 2
Products:
 RT≤ Profilerô PCR ArrayInquire

Gene Symbol: ACOT4 (Human)Other Aliases: PTE-Ib, PTE1B, PTE2B
Refseq IDs: NM_152331
Description: Acyl-CoA thioesterase 4
Products:
 RT≤ Profilerô PCR ArrayInquire

Gene Symbol: ACOT6 (Human)Other Aliases: C14orf42, c14_5530
Refseq IDs: NM_001037162
Description: Acyl-CoA thioesterase 6
Products:
 RT≤ Profilerô PCR Array2 products

Gene Symbol: ACOT7 (Human)Other Aliases: ACH1, ACT, BACH, CTE-II, LACH, LACH1, RP1-120G22.10, hBACH
Refseq IDs: NM_181866, NM_181865, NM_181864, NM_007274, XM_005263427, XR_244784
Description: Acyl-CoA thioesterase 7
This gene encodes a member of the acyl coenzyme family. The encoded protein hydrolyzes the CoA thioester of palmitoyl-CoA and other long-chain fatty acids. Decreased expression of this gene may be associated with mesial temporal lobe epilepsy. Alternatively spliced transcript variants encoding distinct isoforms with different subcellular locations have been characterized.
Products:
 RT≤ Profilerô PCR Array2 products

Gene Symbol: ACOT8 (Human)Other Aliases: HNAACTE, PTE-1, PTE-2, PTE1, PTE2, hACTE-III, hTE
Refseq IDs: NM_005469, XM_005260239, XM_005260240, XM_005260241, XM_005260242, XR_244130
Description: Acyl-CoA thioesterase 8
The protein encoded by this gene is a peroxisomal thioesterase that appears to be involved more in the oxidation of fatty acids rather than in their formation. The encoded protein can bind to the human immunodeficiency virus-1 protein Nef, and mediate Nef-induced down-regulation of CD4 in T-cells. Multiple transcript variants encoding several different isoforms have been found for this gene.
Products:
 RT≤ Profilerô PCR Array2 products

Gene Symbol: ACOT9 (Human)Other Aliases: ACATE2, MT-ACT48, MTACT48
Refseq IDs: NM_001033583, NM_001037171, XM_005274470, XM_005274471, XM_005274472
Description: Acyl-CoA thioesterase 9
Products:
 RT≤ Profilerô PCR Array2 products

Gene Symbol: ACP5 (Human)Other Aliases: SPENCDI, TRAP
Refseq IDs: NM_001611, NM_001111034, NM_001111035, NM_001111036, XM_005259938, XM_005259939
Description: Acid phosphatase 5, tartrate resistant
Acid phosphatase 5 is an iron containing glycoprotein which catalyzes the conversion of orthophosphoric monoester to alcohol and orthophosphate. ACP5 is the most basic of the acid phosphatases and is the only form not inhibited by L(+)-tartrate.
Products:
 RT≤ Profilerô PCR Array1 products

Gene Symbol: ACPT (Human)Other Aliases:
Refseq IDs: NM_033068
Description: Acid phosphatase, testicular
Acid phosphatases are enzymes capable of hydrolyzing orthophosphoric acid esters in an acid medium. This gene is up-regulated by androgens and is down-regulated by estrogens in the prostate cancer cell line. This gene exhibits a lower level of expression in testicular cancer tissues than in normal tissues. The protein encoded by this gene has structural similarity to prostatic and lysosomal acid phosphatases. There are four alternatively spliced transcript variants that have been described for this gene. This gene has been found to have multiple polyadenylation sites.
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 RT≤ Profilerô PCR ArrayInquire

Gene Symbol: ACRBP (Human)Other Aliases: CT23, OY-TES-1, SP32
Refseq IDs: NM_032489, XM_005253801, XM_005253802, XR_242991
Description: Acrosin binding protein
The protein encoded by this gene is similar to proacrosin binding protein sp32 precursor found in mouse, guinea pig, and pig. This protein is located in the sperm acrosome and is thought to function as a binding protein to proacrosin for packaging and condensation of the acrosin zymogen in the acrosomal matrix. This protein is a member of the cancer/testis family of antigens and it is found to be immunogenic. In normal tissues, this mRNA is expressed only in testis, whereas it is detected in a range of different tumor types such as bladder, breast, lung, liver, and colon.
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 RT≤ Profilerô PCR ArrayInquire

Gene Symbol: ACTL7B (Human)Other Aliases: Tact1
Refseq IDs: NM_006686
Description: Actin-like 7B
The protein encoded by this gene is a member of a family of actin-related proteins (ARPs) which share significant amino acid sequence identity to conventional actins. Both actins and ARPs have an actin fold, which is an ATP-binding cleft, as a common feature. The ARPs are involved in diverse cellular processes, including vesicular transport, spindle orientation, nuclear migration and chromatin remodeling. This gene (ACTL7B), and related gene, ACTL7A, are intronless, and are located approximately 4 kb apart in a head-to-head orientation within the familial dysautonomia candidate region on 9q31. Based on mutational analysis of the ACTL7B gene in patients with this disorder, it was concluded that it is unlikely to be involved in the pathogenesis of dysautonomia. Unlike ACTL7A, the ACTL7B gene is expressed predominantly in the testis, however, its exact function is not known.
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 RT≤ Profilerô PCR ArrayInquire

Gene Symbol: ACVR1 (Human)Other Aliases: ACTRI, ACVR1A, ACVRLK2, ALK2, FOP, SKR1, TSRI
Refseq IDs: NM_001105, NM_001111067, XM_005246939, XM_005246940
Description: Activin A receptor, type I
Activins are dimeric growth and differentiation factors which belong to the transforming growth factor-beta (TGF-beta) superfamily of structurally related signaling proteins. Activins signal through a heteromeric complex of receptor serine kinases which include at least two type I ( I and IB) and two type II (II and IIB) receptors. These receptors are all transmembrane proteins, composed of a ligand-binding extracellular domain with cysteine-rich region, a transmembrane domain, and a cytoplasmic domain with predicted serine/threonine specificity. Type I receptors are essential for signaling; and type II receptors are required for binding ligands and for expression of type I receptors. Type I and II receptors form a stable complex after ligand binding, resulting in phosphorylation of type I receptors by type II receptors. This gene encodes activin A type I receptor which signals a particular transcriptional response in concert with activin type II receptors.
Products:
 RT≤ Profilerô PCR Array5 products

Gene Symbol: ACVR1B (Human)Other Aliases: ACTRIB, ACVRLK4, ALK4, SKR2
Refseq IDs: NM_004302, NM_020327, NM_020328
Description: Activin A receptor, type IB
Activins are dimeric growth and differentiation factors which belong to the transforming growth factor-beta (TGF-beta) superfamily of structurally related signaling proteins. Activins signal through a heteromeric complex of receptor serine kinases which include at least two type I (I and IB) and two type II (II and IIB) receptors. These receptors are all transmembrane proteins, composed of a ligand-binding extracellular domain with a cysteine-rich region, a transmembrane domain, and a cytoplasmic domain with predicted serine/threonine specificity. Type I receptors are essential for signaling, and type II receptors are required for binding ligands and for expression of type I receptors. Type I and II receptors form a stable complex after ligand binding, resulting in phosphorylation of type I receptors by type II receptors. This gene encodes activin A type IB receptor, composed of 11 exons. Alternative splicing and alternative polyadenylation result in 3 fully described transcript variants. The mRNA expression of variants 1, 2, and 3 is confirmed, and a potential fourth variant contains an alternative exon 8 and lacks exons 9 through 11, but its mRNA expression has not been confirmed.
Products:
 RT≤ Profilerô PCR Array4 products

Gene Symbol: ACVR2A (Human)Other Aliases: ACTRII, ACVR2
Refseq IDs: NM_001616, NM_001278579, NM_001278580, XM_005263843
Description: Activin A receptor, type IIA
This gene encodes activin A type II receptor. Activins are dimeric growth and differentiation factors which belong to the transforming growth factor-beta (TGF-beta) superfamily of structurally related signaling proteins. Activins signal through a heteromeric complex of receptor serine kinases which include at least two type I (I and IB) and two type II (II and IIB) receptors. These receptors are all transmembrane proteins, composed of a ligand-binding extracellular domain with cysteine-rich region, a transmembrane domain, and a cytoplasmic domain with predicted serine/threonine specificity. Type I receptors are essential for signaling; and type II receptors are required for binding ligands and for expression of type I receptors. Type I and II receptors form a stable complex after ligand binding, resulting in phosphorylation of type I receptors by type II receptors. Type II receptors are considered to be constitutively active kinases.
Products:
 RT≤ Profilerô PCR Array6 products

Gene Symbol: ACVR2B (Human)Other Aliases: ACTRIIB, ActR-IIB, HTX4
Refseq IDs: NM_001106, XM_005265583
Description: Activin A receptor, type IIB
Activins are dimeric growth and differentiation factors which belong to the transforming growth factor-beta (TGF-beta) superfamily of structurally related signaling proteins. Activins signal through a heteromeric complex of receptor serine kinases which include at least two type I (I and IB) and two type II (II and IIB) receptors. These receptors are all transmembrane proteins, composed of a ligand-binding extracellular domain with cysteine-rich region, a transmembrane domain, and a cytoplasmic domain with predicted serine/threonine specificity. Type I receptors are essential for signaling; and type II receptors are required for binding ligands and for expression of type I receptors. Type I and II receptors form a stable complex after ligand binding, resulting in phosphorylation of type I receptors by type II receptors. Type II receptors are considered to be constitutively active kinases. This gene encodes activin A type IIB receptor, which displays a 3- to 4-fold higher affinity for the ligand than activin A type II receptor.
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 RT≤ Profilerô PCR Array2 products

Gene Symbol: ADAD1 (Human)Other Aliases: Tenr
Refseq IDs: NM_139243, NM_001159285, NM_001159295, XM_005262741, XM_005262742, XM_005262743, XM_005262744, XM_005262745
Description: Adenosine deaminase domain containing 1 (testis-specific)
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Gene Symbol: ADAD2 (Human)Other Aliases: TENRL
Refseq IDs: NM_139174, NM_001145400, XM_005255814
Description: Adenosine deaminase domain containing 2
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Gene Symbol: ADAM18 (Human)Other Aliases: ADAM27, tMDCIII
Refseq IDs: NM_014237, NM_001190956, XM_005273667, XR_247133
Description: ADAM metallopeptidase domain 18
This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biologic processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. The protein encoded by this gene is a sperm surface protein.
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Gene Symbol: ADAMTS1 (Human)Other Aliases: C3-C5, METH1
Refseq IDs: NM_006988
Description: ADAM metallopeptidase with thrombospondin type 1 motif, 1
This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motif) protein family. Members of the family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The protein encoded by this gene contains two disintegrin loops and three C-terminal TS motifs and has anti-angiogenic activity. The expression of this gene may be associated with various inflammatory processes as well as development of cancer cachexia. This gene is likely to be necessary for normal growth, fertility, and organ morphology and function.
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 RT≤ Profilerô PCR Array3 products

Gene Symbol: ADAMTS10 (Human)Other Aliases: ADAM-TS10, ADAMTS-10, WMS, WMS1
Refseq IDs: NM_030957, NM_001282352, XM_005272498, XM_005272499, XM_005272500, XM_005272501, XM_005277796, XM_005277797, XM_005277798, XM_005277799
Description: ADAM metallopeptidase with thrombospondin type 1 motif, 10
This gene belongs to the ADAMTS (a disintegrin and metalloproteinase domain with thrombospondin type-1 motifs) family of zinc-dependent proteases. ADAMTS proteases are complex secreted enzymes containing a prometalloprotease domain of the reprolysin type attached to an ancillary domain with a highly conserved structure that includes at least one thrombospondin type 1 repeat. They have been demonstrated to have important roles in connective tissue organization, coagulation, inflammation, arthritis, angiogenesis and cell migration. The product of this gene plays a major role in growth and in skin, lens, and heart development. It is also a candidate gene for autosomal recessive Weill-Marchesani syndrome.
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Gene Symbol: ADAMTS12 (Human)Other Aliases: PRO4389
Refseq IDs: NM_030955, XM_005248381
Description: ADAM metallopeptidase with thrombospondin type 1 motif, 12
This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. Members of the family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS-1) motif. Individual members of this family differ in the number of C-terminal TS-1 motifs, and some have unique C-terminal domains. The enzyme encoded by this gene contains eight TS-1 motifs. It may play roles in pulmonary cells during fetal development or in tumor processes through its proteolytic activity or as a molecule potentially involved in regulation of cell adhesion.
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Gene Symbol: ADAMTS13 (Human)Other Aliases: ADAM-TS13, ADAMTS-13, C9orf8, VWFCP, vWF-CP
Refseq IDs: NM_139027, NM_139026, NM_139025, NR_024514
Description: ADAM metallopeptidase with thrombospondin type 1 motif, 13
This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motif) protein family. Members of the family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The enzyme encoded by this gene is the von Willebrand Factor (vWF)-cleaving protease, which is responsible for cleaving at the site of Tyr842-Met843 of the vWF molecule. A deficiency of this enzyme is associated with thrombotic thrombocytopenic purpura. Alternative splicing of this gene generates at least four transcript variants encoding different isoforms.
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Gene Symbol: ADAMTS14 (Human)Other Aliases:
Refseq IDs: NM_080722, NM_139155
Description: ADAM metallopeptidase with thrombospondin type 1 motif, 14
This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motif) protein family. Members of the family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. This gene is highly similar to two family members, ADAMTS2 and ADAMTS3, in its sequence and gene structure, and the encoded protein shares the aminoprocollagen peptidase activity with the protein products encoded by ADAMTS2 and ADAMTS3. Various transcript variants of this gene have been identified. They result from the use of two different promoters and transcription initiation sites as well as alternative splicing sites. The full length nature of some transcripts has not been defined.
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Gene Symbol: ADAMTS15 (Human)Other Aliases:
Refseq IDs: NM_139055, XM_005271419
Description: ADAM metallopeptidase with thrombospondin type 1 motif, 15
This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. ADAMTS family members share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The protein encoded by this gene has a high sequence similarity to the proteins encoded by ADAMTS1 and ADAMTS8.
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Gene Symbol: ADAMTS16 (Human)Other Aliases: ADAMTS16s
Refseq IDs: NM_139056
Description: ADAM metallopeptidase with thrombospondin type 1 motif, 16
This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. ADAMTS family members share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The protein encoded by this gene has high sequence similarity to the protein encoded by ADAMTS18, another family member.
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Gene Symbol: ADAMTS17 (Human)Other Aliases:
Refseq IDs: NM_139057, XM_005254872, XM_005254873
Description: ADAM metallopeptidase with thrombospondin type 1 motif, 17
This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. ADAMTS family members share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The protein encoded by this gene has a high sequence similarity to the protein encoded by ADAMTS19, another family member. The function of this protein has not been determined.
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Gene Symbol: ADAMTS18 (Human)Other Aliases: ADAMTS21, KNO2, MMCAT
Refseq IDs: NM_199355
Description: ADAM metallopeptidase with thrombospondin type 1 motif, 18
This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. ADAMTS family members share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The protein encoded by this gene has a high sequence similarity to the protein encoded by gene ADAMTS16, another family member. Alternative splicing results in two transcript variants encoding distinct isoforms.
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Gene Symbol: ADAMTS19 (Human)Other Aliases:
Refseq IDs: NM_133638
Description: ADAM metallopeptidase with thrombospondin type 1 motif, 19
This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motif) protein family. Members of the family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The protein encoded by this gene has high sequence similarity to the protein encoded by ADAMTS16, another family member.
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Gene Symbol: ADAMTS2 (Human)Other Aliases: ADAM-TS2, ADAMTS-2, ADAMTS-3, NPI, PC I-NP, PCI-NP, PCINP, PCPNI, PNPI
Refseq IDs: NM_014244, NM_021599
Description: ADAM metallopeptidase with thrombospondin type 1 motif, 2
This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. Members of the family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The enzyme encoded by this gene excises the N-propeptide of type I, type II and type V procollagens. Mutations in this gene cause Ehlers-Danlos syndrome type VIIC, a recessively inherited connective-tissue disorder. Alternative splicing results in two transcript variants. The short transcript encodes a protein which has no significant procollagen N-peptidase activity.
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Gene Symbol: ADAMTS20 (Human)Other Aliases: ADAM-TS20, ADAMTS-20, GON-1
Refseq IDs: NM_025003
Description: ADAM metallopeptidase with thrombospondin type 1 motif, 20
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Gene Symbol: ADAMTS3 (Human)Other Aliases: ADAMTS-4
Refseq IDs: NM_014243
Description: ADAM metallopeptidase with thrombospondin type 1 motif, 3
This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. Members of the family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The protein encoded by this gene is the major procollagen II N-propeptidase. A deficiency of this protein may be responsible for dermatosparaxis, a genetic defect of connective tissues.
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Gene Symbol: ADAMTS4 (Human)Other Aliases: ADAMTS-2, ADAMTS-4, ADMP-1
Refseq IDs: NM_005099
Description: ADAM metallopeptidase with thrombospondin type 1 motif, 4
This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. Members of the family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The enzyme encoded by this gene lacks a C-terminal TS motif. It is responsible for the degradation of aggrecan, a major proteoglycan of cartilage, and brevican, a brain-specific extracellular matrix protein. The cleavage of aggrecan and brevican suggests key roles of this enzyme in arthritic disease and in the central nervous system, potentially, in the progression of glioma.
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Gene Symbol: ADAMTS5 (Human)Other Aliases: ADAM-TS 11, ADAM-TS 5, ADAM-TS5, ADAMTS-11, ADAMTS-5, ADAMTS11, ADMP-2
Refseq IDs: NM_007038
Description: ADAM metallopeptidase with thrombospondin type 1 motif, 5
This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. Members of the family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The enzyme encoded by this gene contains two C-terminal TS motifs and functions as aggrecanase to cleave aggrecan, a major proteoglycan of cartilage.
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Gene Symbol: ADAMTS6 (Human)Other Aliases: ADAM-TS 6, ADAM-TS6, ADAMTS-6
Refseq IDs: NM_197941
Description: ADAM metallopeptidase with thrombospondin type 1 motif, 6
This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. Members of the family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains.
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Gene Symbol: ADAMTS7 (Human)Other Aliases: ADAM-TS 7, ADAM-TS7, ADAMTS-7
Refseq IDs: NM_014272, XM_005254137, XM_005254138
Description: ADAM metallopeptidase with thrombospondin type 1 motif, 7
The protein encoded by this gene is a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) family. Members of this family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The protein encoded by this gene contains two C-terminal TS motifs.
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Gene Symbol: ADAMTS8 (Human)Other Aliases: ADAM-TS8, METH2
Refseq IDs: NM_007037, XM_005271397
Description: ADAM metallopeptidase with thrombospondin type 1 motif, 8
This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. Members of the family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The enzyme encoded by this gene contains two C-terminal TS motifs, and disrupts angiogenesis in vivo. A number of disorders have been mapped in the vicinity of this gene, most notably lung neoplasms.
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Gene Symbol: ADAMTS9 (Human)Other Aliases:
Refseq IDs: NM_182920, XM_005265329, XR_245151
Description: ADAM metallopeptidase with thrombospondin type 1 motif, 9
This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. Members of the family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. Members of the ADAMTS family have been implicated in the cleavage of proteoglycans, the control of organ shape during development, and the inhibition of angiogenesis. This gene is localized to chromosome 3p14.3-p14.2, an area known to be lost in hereditary renal tumors.
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Gene Symbol: ADAMTSL4 (Human)Other Aliases: ADAMTSL-4, ECTOL2, TSRC1
Refseq IDs: NM_025008, NM_019032, NM_001288607, NM_001288608, XM_005245269, XR_241087
Description: ADAMTS-like 4
This gene is a member of ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs)-like gene family and encodes a protein with protein with seven thrombospondin type 1 repeats. The thrombospondin type 1 repeat domain is found in many proteins with diverse biological functions including cellular adhesion, angiogenesis, and patterning of the developing nervous system. Alternate transcriptional splice variants, encoding different isoforms, have been characterized.
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Gene Symbol: ADAMTSL5 (Human)Other Aliases: THSD6
Refseq IDs: NM_213604, XM_005259549, XM_005259550
Description: ADAMTS-like 5
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Gene Symbol: ADAT1 (Human)Other Aliases: HADAT1
Refseq IDs: NM_012091, NR_036460, XM_005255875, XM_005255876, XM_005255877, XM_005255878, XM_005255879
Description: Adenosine deaminase, tRNA-specific 1
This gene is a member of the ADAR (adenosine deaminase acting on RNA) family. Using site-specific adenosine modification, proteins encoded by these genes participate in the pre-mRNA editing of nuclear transcripts. The protein encoded by this gene, tRNA-specific adenosine deaminase 1, is responsible for the deamination of adenosine 37 to inosine in eukaryotic tRNA.
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Gene Symbol: ADAT2 (Human)Other Aliases: DEADC1, TAD2, dJ20N2, dJ20N2.1
Refseq IDs: NM_182503, NM_001286259, XM_005266820, XM_005266821
Description: Adenosine deaminase, tRNA-specific 2
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Gene Symbol: ADAT3 (Human)Other Aliases: FWP005, MRT36, MST121, MSTP121, S863-5, TAD3
Refseq IDs: XM_005259484, NM_138422
Description: Adenosine deaminase, tRNA-specific 3
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Gene Symbol: ADTRP (Human)Other Aliases: AIG1L, C6orf105, dJ413H6.1
Refseq IDs: NM_032744, NM_001143948, XM_005249453, XM_005249454, XM_005249455
Description: Androgen-dependent TFPI-regulating protein
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Gene Symbol: AGMO (Human)Other Aliases: TMEM195
Refseq IDs: NM_001004320
Description: Alkylglycerol monooxygenase
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Gene Symbol: AGPAT6 (Human)Other Aliases: 1-AGPAT 6, LPAAT-zeta, LPAATZ, TSARG7
Refseq IDs: NM_178819, XM_005273402, XM_005273403
Description: 1-acylglycerol-3-phosphate O-acyltransferase 6 (lysophosphatidic acid acyltransferase, zeta)
Lysophosphatidic acid acyltransferases (EC 2.3.1.51) catalyze the conversion of lysophosphatidic acid (LPA) to phosphatidic acid (PA). LPA and PA are involved in signal transduction and lipid biosynthesis.[supplied by OMIM]
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Gene Symbol: AGPAT9 (Human)Other Aliases: AGPAT 10, AGPAT8, GPAT3, LPAAT-theta, MAG1
Refseq IDs: NM_032717, NM_001256421, NM_001256422, XM_005263314
Description: 1-acylglycerol-3-phosphate O-acyltransferase 9
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Gene Symbol: AGTR1 (Human)Other Aliases: AG2S, AGTR1A, AGTR1B, AT1, AT1AR, AT1B, AT1BR, AT1R, AT2R1, AT2R1A, AT2R1B, HAT1R
Refseq IDs: NM_031850, NM_000685, NM_004835, NM_009585, NM_032049
Description: Angiotensin II receptor, type 1
Angiotensin II is a potent vasopressor hormone and a primary regulator of aldosterone secretion. It is an important effector controlling blood pressure and volume in the cardiovascular system. It acts through at least two types of receptors. This gene encodes the type 1 receptor which is thought to mediate the major cardiovascular effects of angiotensin II. AGTR1 may play role in the generation of reperfusion arrhythmias following restoration of blood flow to ischemic or infarcted myocardium. It was previously thought that a related gene AGTR1B exists; however, it is now believed that there is only one AGTR1 gene. The gene expresses at least four transcript variants; additional variants have been described but their full length nature has not been determined. Exon 5 contains the entire coding sequence and is present in all transcript variants.
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Gene Symbol: AGTR2 (Human)Other Aliases: AT2, ATGR2, MRX88
Refseq IDs: NM_000686, XM_005268342, XM_005278221
Description: Angiotensin II receptor, type 2
Angiotensin II is a potent pressor hormone and a primary regulator of aldosterone secretion. It is an important effector controlling blood pressure and volume in the cardiovascular system. It acts through at least two types of receptors termed AT1 and AT2. AGTR2 belongs to a family 1 of G-protein coupled receptors. It is an intergral membrane protein. It plays a role in the central nervous system and cardiovascular functions that are mediated by the renin-angiotensin system. This receptor mediates programmed cell death (apoptosis). In adults, it is highly expressed in myometrium with lower levels in adrenal gland and fallopian tube. It is highly expressed in fetal kidney and intestine. The human AGTR2 gene is composed of three exons and spans at least 5 kb. Exons 1 and 2 encode for 5' untranslated mRNA sequence and exon 3 harbors the entire uninterrupted open reading frame.
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Gene Symbol: AGXT (Human)Other Aliases: AGT, AGT1, AGXT1, PH1, SPAT, SPT, TLH6
Refseq IDs: NM_000030
Description: Alanine-glyoxylate aminotransferase
The human AGXT protein product is normally localized in the peroxisomes of liver where it is involved in glyoxylate detoxification. Defects in the AGXT gene, some of which alter subcellular targetting, are the cause of Oxalosis I.
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Gene Symbol: AHCTF1 (Human)Other Aliases: ELYS, MST108, TMBS62
Refseq IDs: NM_015446
Description: AT hook containing transcription factor 1
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Gene Symbol: AIMP2 (Human)Other Aliases: JTV-1, JTV1, P38
Refseq IDs: NM_006303, XM_005249847, XM_005249848, XM_005249849, XM_005249850
Description: Aminoacyl tRNA synthetase complex-interacting multifunctional protein 2
The JTV1 gene is located on chromosome 7p22 flanked by two genes, HRI and PMS2. JTV1 and HRI overlap slightly and are arranged in a tail-to-tail fashion. JTV1 and PMS2 are separated by approximately 200 base pairs and are arranged head-to-head. JTV1 is transcribed in the opposite direction compared to HRI and PMS2. The function of the JTV1 gene product is unknown.
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Gene Symbol: AKR1C6P (Human)Other Aliases: TAKR
Refseq IDs: NR_026743
Description: Aldo-keto reductase, truncated
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Gene Symbol: AKT1 (Human)Other Aliases: AKT, CWS6, PKB, PKB-ALPHA, PRKBA, RAC, RAC-ALPHA
Refseq IDs: NM_005163, NM_001014431, NM_001014432, XM_005267401, XM_005267402
Description: V-akt murine thymoma viral oncogene homolog 1
The serine-threonine protein kinase encoded by the AKT1 gene is catalytically inactive in serum-starved primary and immortalized fibroblasts. AKT1 and the related AKT2 are activated by platelet-derived growth factor. The activation is rapid and specific, and it is abrogated by mutations in the pleckstrin homology domain of AKT1. It was shown that the activation occurs through phosphatidylinositol 3-kinase. In the developing nervous system AKT is a critical mediator of growth factor-induced neuronal survival. Survival factors can suppress apoptosis in a transcription-independent manner by activating the serine/threonine kinase AKT1, which then phosphorylates and inactivates components of the apoptotic machinery. Multiple alternatively spliced transcript variants have been found for this gene.
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Gene Symbol: AKT2 (Human)Other Aliases: HIHGHH, PKBB, PKBBETA, PRKBB, RAC-BETA
Refseq IDs: NM_001626, NM_001243027, NM_001243028, XM_005258645, XM_005258646, XM_005258647, XM_005258648, XM_005258649, XM_005258650
Description: V-akt murine thymoma viral oncogene homolog 2
AKT2 is a putative oncogene encoding a protein belonging to a subfamily of serine/threonine kinases containing SH2-like (Src homology 2-like) domains. Furthermore, AKT2 was shown to be amplified and overexpressed in 2 of 8 ovarian carcinoma cell lines and 2 of 15 primary ovarian tumors. Overexpression of AKT2 contributes to the malignant phenotype of a subset of human ductal pancreatic cancers. AKT2 is a general protein kinase capable of phophorylating several known proteins.
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Gene Symbol: AKT3 (Human)Other Aliases: MPPH, PKB-GAMMA, PKBG, PRKBG, RAC-PK-gamma, RAC-gamma, STK-2
Refseq IDs: NM_005465, NM_181690, NM_001206729, XM_005272994, XM_005272995, XM_005272996, XM_005272997
Description: V-akt murine thymoma viral oncogene homolog 3 (protein kinase B, gamma)
The protein encoded by this gene is a member of the AKT, also called PKB, serine/threonine protein kinase family. AKT kinases are known to be regulators of cell signaling in response to insulin and growth factors. They are involved in a wide variety of biological processes including cell proliferation, differentiation, apoptosis, tumorigenesis, as well as glycogen synthesis and glucose uptake. This kinase has been shown to be stimulated by platelet-derived growth factor (PDGF), insulin, and insulin-like growth factor 1 (IGF1). Alternatively splice transcript variants encoding distinct isoforms have been described.
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Gene Symbol: ALK (Human)Other Aliases: CD246, NBLST3
Refseq IDs: NM_004304
Description: Anaplastic lymphoma receptor tyrosine kinase
The 2;5 chromosomal translocation is frequently associated with anaplastic large cell lymphomas (ALCLs). The translocation creates a fusion gene consisting of the ALK (anaplastic lymphoma kinase) gene and the nucleophosmin (NPM) gene: the 3' half of ALK, derived from chromosome 2, is fused to the 5' portion of NPM from chromosome 5. A recent study shows that the product of the NPM-ALK fusion gene is oncogenic. The deduced amino acid sequences reveal that ALK is a novel receptor protein-tyrosine kinase having a putative transmembrane domain and an extracellular domain. These sequences are absent in the product of the transforming NPM-ALK gene. ALK shows the greatest sequence similarity to LTK (leukocyte tyrosine kinase). ALK plays an important role in the development of the brain and exerts its effects on specific neurons in the nervous system.
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Gene Symbol: ALPL (Human)Other Aliases: AP-TNAP, APTNAP, HOPS, TNAP, TNSALP
Refseq IDs: NM_000478, NM_001127501, NM_001177520, XM_005245818, XM_005245819, XM_005245820
Description: Alkaline phosphatase, liver/bone/kidney
There are at least four distinct but related alkaline phosphatases: intestinal, placental, placental-like, and liver/bone/kidney (tissue non-specific). The first three are located together on chromosome 2 while the tissue non-specific form is located on chromosome 1. The product of this gene is a membrane bound glycosylated enzyme that is not expressed in any particular tissue and is, therefore, referred to as the tissue-nonspecific form of the enzyme. The exact physiological function of the alkaline phosphatases is not known. A proposed function of this form of the enzyme is matrix mineralization, however, mice that lack a functional form of this enzyme show normal skeletal development. This enzyme has been linked directly to a disorder known as hypophosphatasia, a disorder that is characterized by hypercalcemia and includes skeletal defects. The character of this disorder can vary, however, depending on the specific mutation since this determines age of onset and severity of symptoms.
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Gene Symbol: ANKRD26 (Human)Other Aliases: THC2, bA145E8.1
Refseq IDs: NM_014915, NM_001256053, XM_005252409, XM_005252410, XM_005252411, XM_005252412, XM_005252413, XM_005252414, XM_005252415
Description: Ankyrin repeat domain 26
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Gene Symbol: ANKRD7 (Human)Other Aliases: TSA806
Refseq IDs: NM_019644, XM_005250499, XM_005250500
Description: Ankyrin repeat domain 7
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Gene Symbol: ANO10 (Human)Other Aliases: SCAR10, TMEM16K
Refseq IDs: NM_018075, NM_001204831, NM_001204832, NM_001204833, NM_001204834, XM_005265263, XM_005265264, XM_005265265
Description: Anoctamin 10
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Gene Symbol: ANO2 (Human)Other Aliases: C12orf3, TMEM16B
Refseq IDs: NM_020373, NM_001278596, NM_001278597
Description: Anoctamin 2
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Gene Symbol: ANO3 (Human)Other Aliases: C11orf25, DYT23, DYT24, TMEM16C
Refseq IDs: NM_031418, XM_005253063, XM_005253064
Description: Anoctamin 3
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Gene Symbol: ANO4 (Human)Other Aliases: TMEM16D
Refseq IDs: NM_178826, NM_001286615, NM_001286616, XM_005268648, XM_005268649, XM_005268650
Description: Anoctamin 4
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Gene Symbol: ANO6 (Human)Other Aliases: BDPLT7, SCTS, TMEM16F
Refseq IDs: NM_001025356, NM_001142678, NM_001142679, NM_001142680, NM_001204803, XM_005268706, XM_005268707
Description: Anoctamin 6
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Gene Symbol: ANO7 (Human)Other Aliases: D-TMPP, DTMPP, IPCA-5, IPCA5, NGEP, PCANAP5, PCANAP5L, TMEM16G
Refseq IDs: NM_001001666, NM_001001891
Description: Anoctamin 7
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Gene Symbol: ANO8 (Human)Other Aliases: KIAA1623, TMEM16H
Refseq IDs: NM_020959
Description: Anoctamin 8
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Gene Symbol: ANO9 (Human)Other Aliases: PIG5, TMEM16J, TP53I5
Refseq IDs: NM_001012302, XM_005252885, XM_005252886, XR_242796, XR_242797, XR_242798, XR_242799, XR_242800
Description: Anoctamin 9
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Gene Symbol: ANTXR1 (Human)Other Aliases: ATR, GAPO, TEM8
Refseq IDs: NM_018153, NM_032208, NM_053034, XM_005264595
Description: Anthrax toxin receptor 1
The protein encoded by this gene is a type I transmembrane protein and is a tumor-specific endothelial marker that has been implicated in colorectal cancer. This protein has been shown to also be a docking protein or receptor for Bacillus anthracis toxin, the causative agent of the disease, anthrax. The binding of the protective antigen (PA) component, of the tripartite anthrax toxin, to this receptor protein mediates delivery of toxin components to the cytosol of cells. Once inside the cell, the other two components of anthrax toxin, edema factor (EF) and lethal factor (LF) disrupt normal cellular processes. Three alternatively spliced variants have been described.
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Gene Symbol: ANTXR2 (Human)Other Aliases: CMG-2, CMG2, HFS, ISH, JHF
Refseq IDs: NM_058172, NM_001145794, NM_001286780, NM_001286781, XM_005262727, XM_005262728, XM_005262729
Description: Anthrax toxin receptor 2
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Gene Symbol: ANTXRL (Human)Other Aliases:
Refseq IDs: NR_003601, NM_001278688
Description: Anthrax toxin receptor-like
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Gene Symbol: APITD1 (Human)Other Aliases: CENP-S, CENPS, FAAP16, MHF1
Refseq IDs: XM_005263453, XM_005263454, XM_005263455, NM_199294, NR_036462
Description: Apoptosis-inducing, TAF9-like domain 1
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Gene Symbol: APPBP2 (Human)Other Aliases: APP-BP2, HS.84084, PAT1
Refseq IDs: NM_006380, NM_001282476
Description: Amyloid beta precursor protein (cytoplasmic tail) binding protein 2
The protein encoded by this gene interacts with microtubules and is functionally associated with beta-amyloid precursor protein transport and/or processing. The beta-amyloid precursor protein is a cell surface protein with signal-transducing properties, and it is thought to play a role in the pathogenesis of Alzheimer's disease. This gene has been found to be highly expressed in breast cancer. Multiple polyadenylation sites have been found for this gene.
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Gene Symbol: AR (Human)Other Aliases: AIS, DHTR, HUMARA, HYSP1, KD, NR3C4, SBMA, SMAX1, TFM
Refseq IDs: NM_000044, NM_001011645, XM_005262263, XM_005262264, XR_244495, XR_244496, XR_244497
Description: Androgen receptor
The androgen receptor gene is more than 90 kb long and codes for a protein that has 3 major functional domains: the N-terminal domain, DNA-binding domain, and androgen-binding domain. The protein functions as a steroid-hormone activated transcription factor. Upon binding the hormone ligand, the receptor dissociates from accessory proteins, translocates into the nucleus, dimerizes, and then stimulates transcription of androgen responsive genes. This gene contains 2 polymorphic trinucleotide repeat segments that encode polyglutamine and polyglycine tracts in the N-terminal transactivation domain of its protein. Expansion of the polyglutamine tract causes spinal bulbar muscular atrophy (Kennedy disease). Mutations in this gene are also associated with complete androgen insensitivity (CAIS). Two alternatively spliced variants encoding distinct isoforms have been described.
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Gene Symbol: ARHGEF17 (Human)Other Aliases: P164RHOGEF, TEM4, p164-RhoGEF
Refseq IDs: NM_014786
Description: Rho guanine nucleotide exchange factor (GEF) 17
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Gene Symbol: ARIH2 (Human)Other Aliases: ARI2, TRIAD1
Refseq IDs: NM_006321, XM_005264795, XM_005264796, XM_005264797, XM_005264798, XM_005264799
Description: Ariadne homolog 2 (Drosophila)
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Gene Symbol: ARNT (Human)Other Aliases: HIF-1-beta, HIF-1beta, HIF1-beta, HIF1B, HIF1BETA, TANGO, bHLHe2
Refseq IDs: NM_001668, NM_178427, NM_001197325, NM_001286035, NM_001286036, XM_005245151, XM_005245152, XM_005245153, XM_005245154, XM_005245155, XM_005245156, XM_005245157, XM_005245158, XM_005245159, XM_005245160
Description: Aryl hydrocarbon receptor nuclear translocator
The aryl hydrocarbon (Ah) receptor is involved in the induction of several enzymes that participate in xenobiotic metabolism. The ligand-free, cytosolic form of the Ah receptor is complexed to heat shock protein 90. Binding of ligand, which includes dioxin and polycyclic aromatic hydrocarbons, results in translocation of the ligand-binding subunit only to the nucleus. Induction of enzymes involved in xenobiotic metabolism occurs through binding of the ligand-bound Ah receptor to xenobiotic responsive elements in the promoters of genes for these enzymes. This gene encodes a protein that forms a complex with the ligand-bound Ah receptor, and is required for receptor function. The encoded protein has also been identified as the beta subunit of a heterodimeric transcription factor, hypoxia-inducible factor 1 (HIF1). A t(1;12)(q21;p13) translocation, which results in a TEL-ARNT fusion protein, is associated with acute myeloblastic leukemia. Three alternatively spliced variants encoding different isoforms have been described for this gene.
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Gene Symbol: ARNT2 (Human)Other Aliases: bHLHe1
Refseq IDs: NM_014862, XM_005254811, XM_005254812, XM_005254813
Description: Aryl-hydrocarbon receptor nuclear translocator 2
This gene encodes a member of the basic-helix-loop-helix-Per-Arnt-Sim (bHLH-PAS) superfamily of transcription factors. The encoded protein acts as a partner for several sensor proteins of the bHLH-PAS family, forming heterodimers with the sensor proteins that bind regulatory DNA sequences in genes responsive to developmental and environmental stimuli. Under hypoxic conditions, the encoded protein complexes with hypoxia-inducible factor 1alpha in the nucleus and this complex binds to hypoxia-responsive elements in enhancers and promoters of oxygen-responsive genes. A highly similar protein in mouse forms functional complexes with both aryl hydrocarbon receptors and Single-minded proteins, suggesting addition roles for the encoded protein in the metabolism of xenobiotic compounds and the regulation of neurogenesis, respectively.
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Gene Symbol: ARNTL (Human)Other Aliases: BMAL1, BMAL1c, JAP3, MOP3, PASD3, TIC, bHLHe5
Refseq IDs: NM_001178, NM_001030272, NM_001030273, XM_005252928, XM_005252929, XM_005252930
Description: Aryl hydrocarbon receptor nuclear translocator-like
The protein encoded by this gene is a basic helix-loop-helix protein that forms a heterodimer with CLOCK. This complex binds an E-box upstream of the PER1 gene, activating this gene and possibly other circadian rhythym-associated genes. Three transcript variants encoding two different isoforms have been found for this gene.
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Gene Symbol: ARNTL2 (Human)Other Aliases: BMAL2, CLIF, MOP9, PASD9, bHLHe6
Refseq IDs: NM_020183, NM_001248002, NM_001248003, NM_001248004, NM_001248005
Description: Aryl hydrocarbon receptor nuclear translocator-like 2
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Gene Symbol: ARPC4-TTLL3 (Human)Other Aliases:
Refseq IDs: NM_001198793
Description: ARPC4-TTLL3 readthrough
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Gene Symbol: ARRDC3 (Human)Other Aliases: TLIMP
Refseq IDs: NM_020801
Description: Arrestin domain containing 3
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Gene Symbol: ARSK (Human)Other Aliases: TSULF
Refseq IDs: NM_198150, XM_005271904
Description: Arylsulfatase family, member K
Sulfatases, such as ARSK, hydrolyze sulfate esters from sulfated steroids, carbohydrates, proteoglycans, and glycolipids. They are involved in hormone biosynthesis, modulation of cell signaling, and degradation of macromolecules (Sardiello et al., 2005).[supplied by OMIM]
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Gene Symbol: ASAP1-IT1 (Human)Other Aliases: ASAP1-IT, ASAP1IT, ASAP1IT1, DDEF1IT1, HSPC054, NCRNA00050
Refseq IDs: NR_002765
Description: ASAP1 intronic transcript 1 (non-protein coding)
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Gene Symbol: ASNS (Human)Other Aliases: ASNSD, TS11
Refseq IDs: NM_183356, NM_001673, NM_133436, NM_001178075, NM_001178076, NM_001178077, XR_242240
Description: Asparagine synthetase (glutamine-hydrolyzing)
The protein encoded by this gene is involved in the synthesis of asparagine. This gene complements a mutation in the temperature-sensitive hamster mutant ts11, which blocks progression through the G1 phase of the cell cycle at nonpermissive temperature. There are three alternatively spliced transcript variants encoding the same protein described for this gene.
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Gene Symbol: ATAD1 (Human)Other Aliases: AFDC1, THORASE
Refseq IDs: NM_032810, XM_005270251, XM_005270252, XM_005270253
Description: ATPase family, AAA domain containing 1
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Gene Symbol: ATAD3B (Human)Other Aliases: AAA-TOB3, TOB3
Refseq IDs: NM_031921, XM_005244805, XM_005244806, XM_005244807, XM_005244808, XR_241045
Description: ATPase family, AAA domain containing 3B
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Gene Symbol: ATAT1 (Human)Other Aliases: C6orf134, MEC17, Nbla00487, TAT
Refseq IDs: NM_024909, NM_001031722, NM_001190724, NR_033821, NR_033823, NM_001254952, XM_005249414, XM_005249415, XM_005249416, XM_005249417, XM_005249418, XM_005249419, XM_005249420, XM_005249421, XM_005249422, XM_005272895, XM_005272896, XM_005272897, XM_005272898, XM_005272899, XM_005272900, XM_005272901, XM_005272902, XM_005272903, XM_005275050, XM_005275051, XM_005275052, XM_005275053, XM_005275054, XM_005275055, XM_005275056, XM_005275057, XM_005275058, XM_005275185, XM_005275186, XM_005275187, XM_005275188, XM_005275189, XM_005275190, XM_005275191, XM_005275192, XM_005275193, XM_005275307, XM_005275308, XM_005275309, XM_005275310, XM_005275311, XM_005275312, XM_005275313, XM_005275314, XM_005275315, XM_005275480, XM_005275481, XM_005275482, XM_005275483, XM_005275484, XM_005275485, XM_005275486, XM_005275487, XM_005275488, XM_005275611, XM_005275612, XM_005275613, XM_005275614, XM_005275615, XM_005275616, XM_005275617, XM_005275618, XM_005275619, XR_241917, XR_241918, XR_241919, XR_241920, XR_246968, XR_246969, XR_246970, XR_246971, XR_247355, XR_247356, XR_247357, XR_247358, XR_247376, XR_247377, XR_247378, XR_247379, XR_247391, XR_247392, XR_247393, XR_247394, XR_247407, XR_247408, XR_247409, XR_247410, XR_247428, XR_247429, XR_247430, XR_247431
Description: Alpha tubulin acetyltransferase 1
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Gene Symbol: ATCAY (Human)Other Aliases: BNIP-H, CLAC
Refseq IDs: NM_033064, XM_005259666, XM_005259667
Description: Ataxia, cerebellar, Cayman type
This gene encodes a neuron-restricted protein that contains a CRAL-TRIO motif common to proteins that bind small lipophilic molecules. Mutations in this gene are associated with cerebellar ataxia, Cayman type.
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Gene Symbol: ATF1 (Human)Other Aliases: ATF-1, EWS-ATF1, FUS, TREB36
Refseq IDs: NM_005171
Description: Activating transcription factor 1
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Gene Symbol: ATF2 (Human)Other Aliases: CRE-BP1, CREB2, HB16, TREB7
Refseq IDs: NM_001880, NM_001256090, NM_001256091, NM_001256092, NM_001256093, NM_001256094, NR_045768, NR_045769, NR_045770, NR_045771, NR_045772, NR_045773, NR_045774
Description: Activating transcription factor 2
This gene encodes a transcription factor that is a member of the leucine zipper family of DNA binding proteins. This protein binds to the cAMP-responsive element (CRE), an octameric palindrome. The protein forms a homodimer or heterodimer with c-Jun and stimulates CRE-dependent transcription. The protein is also a histone acetyltransferase (HAT) that specifically acetylates histones H2B and H4 in vitro; thus it may represent a class of sequence-specific factors that activate transcription by direct effects on chromatin components. Additional transcript variants have been identified but their biological validity has not been determined.
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Gene Symbol: ATF3 (Human)Other Aliases:
Refseq IDs: NM_001674, NM_001030287, NM_001040619, NM_001206484, NM_001206485, NM_001206486, NM_001206488, XM_005273146
Description: Activating transcription factor 3
Activating transcription factor 3 is a member of the mammalian activation transcription factor/cAMP responsive element-binding (CREB) protein family of transcription factors. Multiple transcript variants encoding two different isoforms have been found for this gene. The longer isoform represses rather than activates transcription from promoters with ATF binding elements. The shorter isoform (deltaZip2) lacks the leucine zipper protein-dimerization motif and does not bind to DNA, and it stimulates transcription presumably by sequestering inhibitory co-factors away from the promoter. It is possible that alternative splicing of the ATF3 gene may be physiologically important in the regulation of target genes.
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Gene Symbol: ATF4 (Human)Other Aliases: CREB-2, CREB2, TAXREB67, TXREB
Refseq IDs: NM_001675, NM_182810, XM_005261618
Description: Activating transcription factor 4 (tax-responsive enhancer element B67)
This gene encodes a transcription factor that was originally identified as a widely expressed mammalian DNA binding protein that could bind a tax-responsive enhancer element in the LTR of HTLV-1. The encoded protein was also isolated and characterized as the cAMP-response element binding protein 2 (CREB-2). The protein encoded by this gene belongs to a family of DNA-binding proteins that includes the AP-1 family of transcription factors, cAMP-response element binding proteins (CREBs) and CREB-like proteins. These transcription factors share a leucine zipper region that is involved in protein-protein interactions, located C-terminal to a stretch of basic amino acids that functions as a DNA binding domain. Two alternative transcripts encoding the same protein have been described. Two pseudogenes are located on the X chromsome at q28 in a region containing a large inverted duplication.
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Gene Symbol: ATF5 (Human)Other Aliases: ATFX, HMFN0395
Refseq IDs: NM_012068, NM_001193646, XM_005258658
Description: Activating transcription factor 5
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Gene Symbol: ATF6 (Human)Other Aliases: ATF6A
Refseq IDs: NM_007348
Description: Activating transcription factor 6
ATF6 is an endoplasmic reticulum (ER) stress-regulated transmembrane transcription factor that activates the transcription of ER molecules.[supplied by OMIM]
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Gene Symbol: ATF6B (Human)Other Aliases: CREB-RP, CREBL1, G13
Refseq IDs: NM_004381, NM_001136153
Description: Activating transcription factor 6 beta
The protein encoded by this gene bears sequence similarity with the Creb/ATF subfamily of the bZip superfamily of transcription factors. It localizes to both the cytoplasm and the nucleus. The gene localizes to the major histocompatibility complex (MHC) class III region on chromosome 6.
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Gene Symbol: ATF7 (Human)Other Aliases: ATFA
Refseq IDs: NM_006856, NM_001130059, NM_001130060, NM_001206682, NM_001206683, NR_073163, XM_005268586, XM_005268587
Description: Activating transcription factor 7
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Gene Symbol: ATF7IP (Human)Other Aliases: AM, ATF-IP, MCAF, MCAF1, p621
Refseq IDs: NM_018179, NM_001286514, NM_001286515, NM_181352, XM_005253423, XM_005253424, XM_005253425, XM_005253426, XM_005253427, XM_005253428, XM_005253429
Description: Activating transcription factor 7 interacting protein
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Gene Symbol: ATF7IP2 (Human)Other Aliases: MCAF2
Refseq IDs: NM_024997, NM_001256160, NR_045815, NR_045816
Description: Activating transcription factor 7 interacting protein 2
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Gene Symbol: ATHL1 (Human)Other Aliases:
Refseq IDs: NM_025092, XM_005253145, XM_005253146, XR_242825, XR_242826
Description: ATH1, acid trehalase-like 1 (yeast)
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Gene Symbol: ATM (Human)Other Aliases: AT1, ATA, ATC, ATD, ATDC, ATE, TEL1, TELO1
Refseq IDs: NM_000051, XM_005271561, XM_005271562, XM_005271563, XM_005271564
Description: Ataxia telangiectasia mutated
The protein encoded by this gene belongs to the PI3/PI4-kinase family. This protein is an important cell cycle checkpoint kinase that phosphorylates; thus, it functions as a regulator of a wide variety of downstream proteins, including tumor suppressor proteins p53 and BRCA1, checkpoint kinase CHK2, checkpoint proteins RAD17 and RAD9, and DNA repair protein NBS1. This protein and the closely related kinase ATR are thought to be master controllers of cell cycle checkpoint signaling pathways that are required for cell response to DNA damage and for genome stability. Mutations in this gene are associated with ataxia telangiectasia, an autosomal recessive disorder. Two transcript variants encoding different isoforms have been found for this gene.
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Gene Symbol: ATP10A (Human)Other Aliases: ATP10C, ATPVA, ATPVC
Refseq IDs: NM_024490, XM_005268261, XM_005268262
Description: ATPase, Class V, type 10A
The protein encoded by this gene belongs to the family of P-type cation transport ATPases, and to the subfamily of aminophospholipid-transporting ATPases. The aminophospholipid translocases transport phosphatidylserine and phosphatidylethanolamine from one side of a bilayer to another. This gene is maternally expressed. It maps within the most common interval of deletion responsible for Angelman syndrome, also known as 'happy puppet syndrome'.
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Gene Symbol: ATP10B (Human)Other Aliases: ATPVB
Refseq IDs: NM_025153, XM_005265848, XM_005265849
Description: ATPase, Class V, type 10B
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Gene Symbol: ATP10D (Human)Other Aliases: ATPVD
Refseq IDs: NM_020453, XM_005248118, XM_005248119, XM_005248120
Description: ATPase, Class V, type 10D
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Gene Symbol: ATP11A (Human)Other Aliases: ATPIH, ATPIS
Refseq IDs: NM_032189, NM_015205, XM_005268299, XM_005268300, XM_005268301, XM_005268302, XM_005268303, XM_005268304, XM_005268305, XM_005268306
Description: ATPase, Class VI, type 11A
The protein encoded by this gene is an integral membrane ATPase. The encoded protein is probably phosphorylated in its intermediate state and likely drives the transport of ions such as calcium across membranes. Two transcript variants encoding different isoforms have been found for this gene.
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Gene Symbol: ATP11B (Human)Other Aliases: ATPIF, ATPIR
Refseq IDs: NM_014616, XM_005247241, XM_005247242, XM_005247243, XM_005247244
Description: ATPase, Class VI, type 11B
P-type ATPases, such as ATP11B, are phosphorylated in their intermediate state and drive uphill transport of ions across membranes. Several subfamilies of P-type ATPases have been identified. One subfamily transports heavy metal ions, such as Cu(2+) or Cd(2+). Another subfamily transports non-heavy metal ions, such as H(+), Na(+), K(+), or Ca(+). A third subfamily transports amphipaths, such as phosphatidylserine.[supplied by OMIM]
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