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PRKAG2 - protein kinase AMP-activated non-catalytic subunit gamma 2
- Synonym(s) : AAKG, AAKG2, AMPK gamma2, CMH6, H91620p, WPWS
- Previous symbols and names : protein kinase, AMP-activated, gamma 2 non-catalytic subunit
- Type : gene with protein product
- Chromosomal location : 7q36.1
- OMIM: 602743
- HGNC: 9386
- UniProtKB: Q9UGJ0
- Genatlas: PRKAG2
- GenCC: PRKAG2
- Ensembl: ENSG00000106617
- IUPHAR-DB: 1546
- Reactome: Q9UGJ0
- LOVD: PRKAG2
Diseases list
- Disease-causing germline mutation(s) in Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease
ORPHA:439854 - Disease-causing germline mutation(s) in NON RARE IN EUROPE: Familial isolated hypertrophic cardiomyopathy
ORPHA:155 - Disease-causing germline mutation(s) in NON RARE IN EUROPE: Wolff-Parkinson-White syndrome
ORPHA:907

Additional information
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