PRKAG2
MIM.602743 HGNC:9386 7q35-q36 Entrez:51422
The mammalian 5-prime-AMP-activated protein kinase (AMPK) appears to act as a metabolic stress-sensing protein kinase. AMPK is a heterotrimeric protein composed of a catalytic alpha subunit (PRKAA1 - MIM.602739), a noncatalytic beta subunit, and a noncatalytic gamma subunit.
Pathology
activating mutation in PRKAG2 coding for gamma 2-subunit of AMP-activated protein kinase in fatal congenital heart glycogenosis (MIM.261740) (#15868515#)
autosomal dominant hypertrophic cardiomyopathy with Wolff-Parkinson-White syndrome (MIM.600858)
Wolff-Parkinson-White syndrome with early onset