PHKA2 : phosphorylase kinase regulatory subunit alpha 2
Description
The PHKA2 (phosphorylase kinase regulatory subunit alpha 2) is a protein-coding gene located on chromosome X.
The PHKA2 gene provides instructions for making the alpha subunit of the phosphorylase b kinase enzyme, essential for energy production. This enzyme is composed of 16 subunits, four each of the alpha, beta, gamma, and delta subunits, with each subunit encoded by a different gene. The alpha subunit regulates phosphorylase b kinase activity. This enzyme is found in various tissues but is most abundant in the liver and muscles. The PHKA2 gene produces the alpha-2 subunit, specifically found in the liver. Phosphorylase b kinase plays a crucial role in cellular energy production by activating another enzyme, glycogen phosphorylase b, to break down glycogen, a stored form of glucose, into glucose for energy.
Phosphorylase b kinase, an enzyme essential for energy production, catalyzes the phosphorylation of serine in specific substrates such as troponin I. The alpha subunit of this enzyme, encoded by the PHKA2 gene, might bind calmodulin, a calcium-binding protein involved in regulating various cellular processes.
PHKA2 is also known as GSD9A, PHK, PYK, PYKL, XLG, XLG2.
Associated Diseases
- Glycogen storage disease, type IXa1
- Glycogen storage disease due to liver phosphorylase kinase deficiency
- Glycogen storage disease type IX
