PHKG2 Antibody – Rabbit Polyclonal

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]

PHKG2: a Ca(2 )/calmodulin-dependent protein kinase of the PHK family. Phosphorylase kinase is a polymer of 16 chains, four each of alpha, beta, gamma, and delta. Alpha and beta are regulatory chains, gamma is the catalytic chain, and delta is calmodulin. This isozyme may regulate glycogeneolysis in the testis.

Protein type: EC 2.7.11.19; Protein kinase, Ser/Thr (non-receptor); Protein kinase, CAMK; Kinase, protein; CAMK group; PHK family

Chromosomal Location of Human Ortholog: 16p11.2

Cellular Component: phosphorylase kinase complex; cytosol

Molecular Function: calmodulin binding; protein serine/threonine kinase activity; phosphorylase kinase activity; tau-protein kinase activity; ATP binding

Biological Process: glycogen metabolic process; glycogen biosynthetic process; generation of precursor metabolites and energy; glycogen catabolic process; carbohydrate metabolic process; glucose metabolic process; pathogenesis; protein amino acid phosphorylation; positive regulation of glycogen catabolic process

Disease: Glycogen Storage Disease Ixc