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PRKAG2 protein kinase AMP-activated non-catalytic subunit gamma 2

Gene ID: 51422, updated on 21-Mar-2023
Gene type: protein coding
Also known as: AAKG; CMH6; WPWS; AAKG2; H91620p


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]

Associated conditions

See all available tests in GTR for this gene

Genome-wide association analyses identify 18 new loci associated with serum urate concentrations.
GeneReviews: Not available
Genome-wide association analysis of age at onset and psychotic symptoms in bipolar disorder.
GeneReviews: Not available
Hypertrophic cardiomyopathy 6See labs
Lethal congenital glycogen storage disease of heart
MedGen: C1849813OMIM: 261740GeneReviews: Not available
See labs
Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium.
GeneReviews: Not available
New loci associated with kidney function and chronic kidney disease.
GeneReviews: Not available
Seventy-five genetic loci influencing the human red blood cell.
GeneReviews: Not available
Wolff-Parkinson-White pattern
MedGen: C0043202OMIM: 194200GeneReviews: Not available
See labs

Copy number response

Copy number response

No evidence available (Last evaluated 2015-11-05)

ClinGen Genome Curation Page

No evidence available (Last evaluated 2015-11-05)

ClinGen Genome Curation Page

Genomic context

Chromosome: 7; NC_000007.14 (151556127..151877115, complement)
Total number of exons:


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