Gene PRKAG2
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Also known as
AMPK gamma-2, WPW, CMH6Overview
PRKAG2 (Protein Kinase AMP-Activated Catalytic Subunit Gamma 2) encodes the gamma-2 regulatory subunit of AMP-activated protein kinase (AMPK), a crucial cellular energy sensor. AMPK plays a central role in regulating energy metabolism by monitoring the AMP/ATP ratio in cells and activating catabolic pathways while inhibiting anabolic processes when energy is low. The PRKAG2 subunit is primarily expressed in cardiac muscle, skeletal muscle, and other tissues with high energy demands, where it helps maintain cellular energy homeostasis.Mutations in PRKAG2 cause a glycogen storage cardiomyopathy characterized by massive glycogen accumulation in the heart, cardiac hypertrophy, and Wolff-Parkinson-White syndrome (a pre-excitation disorder causing abnormal heart rhythms). This condition is inherited in an autosomal dominant manner and typically presents in childhood or adolescence with palpitations, syncope, or sudden cardiac death. The excessive glycogen storage results from constitutive AMPK activation that mimics a chronic energy-depleted state. Genetic testing is important for diagnosis and family screening, as early identification can guide management strategies including electrophysiology procedures and device therapy to prevent sudden cardiac death.