PHKG2 Proteins

Protein Information

PHKG2 is a testis/liver isoform of the phosphorylase kinase gamma subunit. 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 PHKG2. 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 PHKG2 cause glycogen storage disease type 9C, also known as autosomal liver glycogenosis. Alternatively spliced transcript variants encoding different isoforms have been identified in PHKG2.

Synonyms

1500017I02Rik; GSD9C; Phkg2; PHK-gamma-LT; PHK-gamma-T; Phosphorylase b kinase gamma catalytic chain, liver/testis isoform; phosphorylase b kinase gamma catalytic chain, testis/liver isoform; phosphorylase kinase; phosphorylase kinase catalytic subunit gamma 2; phosphorylase kinase gamma subunit 2; phosphorylase kinase subunit gamma 2; phosphorylase kinase subunit gamma-2; phosphorylase kinase, gamma 2 (testis); Phosphorylase kinase, gamma 2 (testis/liver); PSK-C3; serine/threonine-protein kinase PHKG2