PHKG2 : phosphorylase kinase catalytic subunit gamma 2

Description

The PHKG2 gene encodes for the glycogen phosphorylase kinase, beta subunit (PHKG2), a crucial enzyme involved in glycogen metabolism. This enzyme, along with its alpha and gamma subunits, plays a pivotal role in the regulation of glycogen breakdown, a process essential for energy production in muscles and other tissues. PHKG2 mutations can lead to various genetic disorders, impacting muscle function and potentially affecting overall health.

Associated Diseases

• Glycogen Storage Disease Type IX (GSD IX)
• X-Linked Myopathy with Excessive Autophagy (XMEA)
• Cardiomyopathy

Did you know?

Mutations in PHKG2 are particularly prevalent in certain populations, leading to increased susceptibility to specific inherited disorders.