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PHKG2 phosphorylase kinase catalytic subunit gamma 2

Also known as: GSD9C

Summary

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, encoded by two different genes. 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, and the hepatic isoform is encoded by this gene. 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 9C, also known as autosomal liver glycogenosis. Alternatively spliced transcript variants encoding different isoforms have been identified in this gene.[provided by RefSeq, Feb 2010]

Associated conditions

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DescriptionTests
Glycogen storage disease IXc
MedGen: C2751643OMIM: 613027GeneReviews: Not available
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Genomic context

Location:
16p11.2
Sequence:
Chromosome: 16; NC_000016.10 (30748299..30761176)
Total number of exons:
10

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