Description
Product Characteristics:
Aliases: 5330411D17 antibody, 9830108K24Rik antibody, kinase PHKA1 antibody, KPB1 antibody, KPB1_HUMAN antibody, MGC132604 antibody, Pcyt1b antibody, PHKA antibody, PHKA1 antibody, Phosphorylase b kinase regulatory subunit alpha antibody, Phosphorylase b kinase regulatory subunit alpha, skeletal muscle isoform antibody, Phosphorylase kinase alpha M subunit antibody, phosphorylase kinase, alpha 1 (muscle) antibody, RP23 210E20.1 antibody, skeletal muscle isoform antibody
Target 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]