Phosphorylase Kinase, alpha 2 Proteine (PHKA2)

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 hepatic 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 9A, also known as X-linked liver glycogenosis. Alternatively spliced transcript variants have been reported, but the full-length nature of these variants has not been determined.

• phosphorylase kinase regulatory subunit alpha 2 (PHKA2)
• phosphorylase kinase regulatory subunit alpha 2 (Phka2)
• phosphorylase kinase alpha 2 (Phka2)

• 6330505C01Rik Protein
• D330034O08 Protein
• GSD9A Protein
• Phk Protein
• PHKA2 Protein
• Alle Synonyme
• PYK Protein
• PYKL Protein
• XLG Protein
• XLG2 Protein

phosphorylase b kinase regulatory subunit alpha liver isoform , phosphorylase b kinase regulatory subunit alpha, liver isoform , phosphorylase kinase alpha L subunit , phosphorylase kinase alpha-subunit , phosphorylase kinase, alpha 2 (liver) , phosphorylase kinase, alpha 2 (liver) isoform 1 , phosphorylase kinase, alpha 2 (liver) isoform 2 , Phosphorylase b kinase regulatory subunit alpha, liver isoform , Phosphorylase kinase alpha L subunit , phosphorylase b kinase regulatory subunit alpha, liver isoform-like