PHKB : phosphorylase kinase regulatory subunit beta

Description

The PHKB gene provides instructions for making the enzyme glycogen phosphorylase kinase beta subunit (PHKB). This enzyme plays a crucial role in glycogen metabolism, a process that breaks down glycogen, a stored form of glucose, to provide energy for the body. PHKB is part of a larger complex that activates glycogen phosphorylase, the enzyme responsible for the initial step in glycogen breakdown. Mutations in the PHKB gene can disrupt this process, leading to glycogen storage diseases.

Associated Diseases

• Glycogen Storage Disease Type IX (GSD IX)
• Glycogen Storage Disease Type IXa
• Glycogen Storage Disease Type IXb

Did you know?

Individuals with GSD IX often experience mild symptoms, with some remaining undiagnosed throughout their lives.