PrimePCR™ ddPCR™ Expression Probe Assay: PHKA1, Human


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

Info:   HEX; Same primer pair and probe as used in qPCR assay qHsaCEP0049515; exonic

Fluorophore:   HEX
List Price:    $207.00
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Assay Information

Technology:   ddPCR
Assay Type:   Probe
Application:   Gene Expression
Unique Assay ID:   dHsaCPE5032711
Chromosome Location:   X:71800752-71800898question
Amplicon Length:   117

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 skeletal muscle 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 9D also known as X-linked muscle glycogenosis. Alternatively spliced transcript variants encoding different isoforms have been identified in this gene. A pseudogene has been found on chromosome 1.[provided by RefSeq Feb 2010]

Gene Symbol:   PHKA1
Gene Name:   phosphorylase kinase, alpha 1 (muscle)
Aliases:   MGC132604, PHKA
RefSeq:   NC_000023.10 NT_011669.17 NG_016599.1
Ensembl:   ENSG00000067177
Entrez:   5255
UniGene:   Hs.201379
Chromosome Mapping:   Xq12-q13

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