PrimePCR™ ddPCR™ Expression Probe Assay: ATRX, Human


ddPCR probe assay designed for gene expression analysis. Probe assays consist of unlabeled PCR primers and a dual labeled fluorescent probe.

Info:   FAM; Same primer pair and probe as used in qPCR assay qHsaCEP0049784; exonic

Fluorophore:   FAM
List Price:    $213.00
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Assay Information

Technology:   ddPCR
Assay Type:   Probe
Application:   Gene Expression
Unique Assay ID:   dHsaCPE5033112
Chromosome Location:   X:76874312-76874433question
Amplicon Length:   92

Gene Information

The protein encoded by this gene contains an ATPase/helicase domain and thus it belongs to the SWI/SNF family of chromatin remodeling proteins. The mutations of this gene are associated with an X-linked mental retardation (XLMR) syndrome most often accompanied by alpha-thalassemia (ATRX) syndrome. These mutations have been shown to cause diverse changes in the pattern of DNA methylation which may provide a link between chromatin remodeling DNA methylation and gene expression in developmental processes. This protein is found to undergo cell cycle-dependent phosphorylation which regulates its nuclear matrix and chromatin association and suggests its involvement in the gene regulation at interphase and chromosomal segregation in mitosis. Multiple alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq Jul 2008]

Gene Symbol:   ATRX
Gene Name:   alpha thalassemia/mental retardation syndrome X-linked
Aliases:   ATR2, JMS, MGC2094, MRXHF1, RAD54, RAD54L, SFM1, SHS, XH2, XNP, ZNF-HX
RefSeq:   NC_000023.10 NG_008838.1 NT_011651.17
Ensembl:   ENSG00000085224
Entrez:   546
UniGene:   Hs.533526
Chromosome Mapping:   Xq21.1

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