Gene Symbol | PRKAG2 |
Entrez Gene ID | 51422 |
Full Name | protein kinase AMP-activated non-catalytic subunit gamma 2 |
Synonyms | AAKG,AAKG2,CMH6,H91620p,WPWS |
General protein information |
|
Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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. [provided by RefSeq, Jan 2015]. |
Disorder MIM: | |
Disorder Html: | Wolff-Parkinson-White syndrome, 194200 (3); Cardiomyopathy, hypertrophic 6, 600858 (3); Glycogen storage disease of heart, lethal congenital, 261740 (3) |