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Overview
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Gene Accession: BC020540
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Background
AMP-activated protein kinase (AMPK) is a heterotrimeric protein composed of a catalytic alpha subunit, a noncatalytic beta subunit, and a noncatalytic regulatory gamma subunit. Various forms of each of these subunits exist, encoded by different genes. AMPK is an important energy-sensing enzyme that monitors cellular energy status and functions by inactivating key enzymes involved in regulating de novo biosynthesis of fatty acid and cholesterol. This gene is a member of the AMPK gamma subunit family. Mutations in this gene have been associated with Wolff-Parkinson-White syndrome, familial hypertrophic cardiomyopathy, and glycogen storage disease of the heart. Alternate transcriptional splice variants, encoding different isoforms, have been characterized.
PRKAG2 (Protein Kinase AMP-Activated Non-Catalytic Subunit Gamma 2) is a Protein Coding gene. Diseases associated with PRKAG2 include Glycogen Storage Disease Of Heart, Lethal Congenital and Wolff-Parkinson-White Syndrome. Among its related pathways are RET signaling and Regulation of TP53 Activity. GO annotations related to this gene include protein kinase binding and protein kinase activator activity. An important paralog of this gene is PRKAG1.
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