PRKAG2

Description

The PRKAG2 gene provides instructions for making a protein called AMP-activated protein kinase gamma 2 subunit (AMPKγ2). AMPK is a crucial enzyme involved in cellular energy homeostasis, acting as a cellular energy sensor. AMPKγ2 specifically resides in skeletal muscle, heart, and brain, playing a vital role in regulating glucose uptake, fatty acid oxidation, and glycogen synthesis. Mutations in the PRKAG2 gene can disrupt AMPKγ2 function, leading to various metabolic disorders.

Associated Diseases

• Wolcott-Rallison syndrome
• Familial hypertrophic cardiomyopathy
• Exercise intolerance
• Muscle weakness
• Glycogen storage disease
• Abnormal blood sugar levels
• Heart rhythm abnormalities

Did you know?

Mutations in PRKAG2 can lead to a condition called "Wolcott-Rallison syndrome" characterized by severe diabetes, skeletal abnormalities, and heart problems.