Recombinant Human Phosphorylase b kinase regulatory subunit alpha, liver isoform (PHKA2), Truncated

Uniprot Id

P46019

Target Species

Human

Target Name

PHKA2

Target Full Name

Phosphorylase b kinase regulatory subunit alpha, liver isoform

Target Function

Phosphorylase b kinase catalyzes the phosphorylation of serine in certain substrates, including troponin I. The alpha chain may bind calmodulin.

Target Involvement

Glycogen storage disease 9A (GSD9A)

Target Subcellular Location

Cell membrane; Lipid-anchor; Cytoplasmic side.

Target Protein Families

Phosphorylase b kinase regulatory chain family

Target Tissue Specificity

Predominantly expressed in liver and other non-muscle tissues.

Target Synonyms

PHKA2; PHKLA; PYKPhosphorylase b kinase regulatory subunit alpha; liver isoform; Phosphorylase kinase alpha L subunit

Target Background

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.