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

Did you know?

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


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