PHKG2

Ideogram human chromosome 16

PHKG2

PHKG2 is a gene that encodes the enzyme phosphorylase kinase gamma 2. This enzyme plays a crucial role in glycogen metabolism by regulating the activity of glycogen phosphorylase. The PHKG2 gene is located on chromosome 16 in humans.

Function

Phosphorylase kinase gamma 2 is a subunit of phosphorylase kinase, which is responsible for the activation of glycogen phosphorylase. This activation leads to the breakdown of glycogen into glucose, providing a source of energy for cells. PHKG2 specifically regulates the activity of glycogen phosphorylase in response to various signals within the cell.

Structure

The PHKG2 gene encodes a protein that consists of multiple subunits, including the gamma 2 subunit. This subunit is essential for the proper functioning of phosphorylase kinase and is involved in the phosphorylation of glycogen phosphorylase.

Clinical Significance

Mutations in the PHKG2 gene have been associated with glycogen storage diseases, specifically glycogen storage disease type IX. This condition is characterized by an impairment in glycogen metabolism, leading to symptoms such as muscle weakness, fatigue, and low blood sugar levels.