Rabbit anti-Human PHKA1 Polyclonal Antibody, FITC conjugated

Uniprot Id

P46020

Target Species

Human

Target Name

PHKA1

Target Full Name

Phosphorylase b kinase regulatory subunit alpha, skeletal muscle 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 9D (GSD9D)

Target Subcellular Location

Cell membrane; Lipid-anchor; Cytoplasmic side.

Target Protein Families

Phosphorylase b kinase regulatory chain family

Target Tissue Specificity

Muscle specific. Isoform 1 is predominant in vastus lateralis muscle. Isoform 2 predominates slightly in heart, and it predominates clearly in the other tissues tested.

Target Synonyms

5330411D17; 9830108K24Rik; kinase PHKA1; KPB1; KPB1_HUMAN; MGC132604 ; Pcyt1b; PHKA; PHKA1; Phosphorylase b kinase regulatory subunit alpha; Phosphorylase b kinase regulatory subunit alpha, skeletal muscle isoform; Phosphorylase kinase alpha M subunit; phosphorylase kinase, alpha 1 (muscle); RP23 210E20.1; skeletal muscle isoform

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 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.