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]
- Glycogen metabolic process
- Regulation of glycolytic process
- Protein phosphorylation
- Negative regulation of protein kinase activity
- Lipid metabolic process
- Glycogen storage disease of heart, lethal congenital
- Wolff-parkinson-white syndrome
- Cardiomyopathy, familial hypertrophic, 6
- Atrial standstill 1
- Hypertrophic cardiomyopathy
Gene Location
