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Overview
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PHKG2 is the hepatic and testis isoform of the gamma subunit of phosphorylase kinase. PHKG2 gene contains 10 exons and spans 9.5 kb and maps to chromosome 16p12.1-p11.2. Deficiency of PHK, a regulatory enzyme of glycogen metabolism, is responsible for 25% of all cases of glycogen storage disease and is genetically and clinically heterogeneous. Mutations in the PHKG2 gene lead to autosomal liver-specific PHK deficiency (glycogen storage disease IXc) and an increased risk of cirrhosis and at least 11 PHKG2 mutations have been identified to date.
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Overview