Recombinant Human Phosphorylase b kinase regulatory subunit beta (PHKB), Truncated

Uniprot Id

Q93100

Target Species

Human

Target Name

PHKB

Target Full Name

Phosphorylase b kinase regulatory subunit beta

Target Function

Phosphorylase b kinase catalyzes the phosphorylation of serine in certain substrates, including troponin I. The beta chain acts as a regulatory unit and modulates the activity of the holoenzyme in response to phosphorylation.

Target Involvement

Glycogen storage disease 9B (GSD9B)

Target Subcellular Location

Cell membrane; Lipid-anchor; Cytoplasmic side.

Target Protein Families

Phosphorylase b kinase regulatory chain family

Target Synonyms

DKFZp781E15103; FLJ41698; KPBB_HUMAN; PHKB; Phosphorylase b kinase regulatory subunit beta; Phosphorylase kinase B; Phosphorylase kinase beta polypeptide; Phosphorylase kinase beta subunit; Phosphorylase kinase subunit beta

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, encoded by two different genes. The beta subunit is the same in both the muscle and hepatic isoforms, encoded by this gene, which is a member of the phosphorylase b kinase regulatory subunit family. The gamma subunit also includes the skeletal muscle and hepatic isoforms, 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 9B, also known as phosphorylase kinase deficiency of liver and muscle. Alternatively spliced transcript variants encoding different isoforms have been identified in this gene. Two pseudogenes have been found on chromosomes 14 and 20, respectively.