Variants
Sign InSign Up

PHKA1 Gene

phosphorylase kinase regulatory subunit alpha 1

ALIAS SYMBOLS

  • None

Your Results

Sign In

Description

The PHKA1 gene provides instructions for making one piece, the alpha subunit, of the phosphorylase b kinase enzyme. This enzyme is made up of 16 subunits, four each of the alpha, beta, gamma, and delta subunits. (Each subunit is produced from a different gene.) The alpha subunit helps regulate the activity of phosphorylase b kinase. This enzyme is found in various tissues, although it is most abundant in the liver and muscles. One version of the enzyme is found in liver cells and another in muscle cells. The alpha-1 subunit produced from the PHKA1 gene is part of the enzyme found in muscle cells.

Phosphorylase b kinase plays an important role in providing energy for cells. The main source of cellular energy is a simple sugar called glucose. Glucose is stored in muscle and liver cells in a form called glycogen. Glycogen can be broken down rapidly when glucose is needed, for instance during exercise. Phosphorylase b kinase turns on (activates) another enzyme called glycogen phosphorylase b by converting it to the more active form, glycogen phosphorylase a. When active, this enzyme breaks down glycogen.

CHROMOSOME

X


LOCATION

q13.1


LOCUS TYPE

gene with protein product

VARIANTS

225

SEE THE VARIANTS →

Phenotypes

External Links

  • HGNC

    HGNC:8925

  • NCBI

    5255

  • OMIM

    311870

© 2024 Biocodify. All rights reserved.

TwitterTwitter

Product

HomePricingDashboard

Stay up to date

The latest news and updates from Biocodify, sent to your inbox.