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.
