PrimePCR™ ddPCR™ Expression Probe Assay: PHKA2, Human

PrimePCR

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 qHsaCIP0029519; Intron-spanning

 
Fluorophore:   FAM
List Price:    $201.00
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Assay Information

Technology:   ddPCR
Assay Type:   Probe
Application:   Gene Expression
Unique Assay ID:   dHsaCPE5052480
Chromosome Location:   X:18936884-18938190question
Amplicon Length:   100

Gene Information

Phosphorylase kinase is a polymer of 16 subunits four each of alpha beta gamma and delta. The alpha subunit includes the skeletal muscle and hepatic isoforms and the hepatic isoform is encoded by this gene. The beta subunit is the same in both the muscle and hepatic isoforms and encoded by one gene. The gamma subunit also includes the skeletal muscle and hepatic isoforms which are encoded by two different genes. The delta subunit is a calmodulin and can be encoded by three different genes. The gamma subunits contain the active site of the enzyme whereas the alpha and beta subunits have regulatory functions controlled by phosphorylation. The delta subunit mediates the dependence of the enzyme on calcium concentration. Mutations in this gene cause glycogen storage disease type 9A also known as X-linked liver glycogenosis. Alternatively spliced transcript variants have been reported but the full-length nature of these variants has not been determined.[provided by RefSeq Feb 2010]

Gene Symbol:   PHKA2
Gene Name:   phosphorylase kinase, alpha 2 (liver)
Aliases:   GSD9A, MGC133071, PHK, PYK, PYKL, XLG, XLG2
RefSeq:   NC_000023.10 NG_016622.1 NT_167197.1
Ensembl:   ENSG00000044446
Entrez:   5256
UniGene:   Hs.54941
Chromosome Mapping:   Xp22.2-p22.1

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