Gene: PRKAG2

Alternate names for this Gene: AAKG|AAKG2|CMH6|H91620p|WPWS

Gene Summary: 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.

Gene is located in Chromosome: 7

Location in Chromosome : 7q36.1

Description of this Gene: protein kinase AMP-activated non-catalytic subunit gamma 2

Type of Gene: protein-coding

Gene: LOC644090

Alternate names for this Gene:

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rs62478245 in PRKAG2;LOC644090 gene and Glaucoma, Open-Angle PMID 29891935 2018 A multiethnic genome-wide association study of primary open-angle glaucoma identifies novel risk loci.

rs9648724 in PRKAG2;LOC644090 gene and HIV Infections PMID 26148204 2015 Genomewide association study of tenofovir pharmacokinetics and creatinine clearance in AIDS Clinical Trials Group protocol A5202.