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GAA - alpha glucosidase
- Synonym(s) : glycogen storage disease type II, Pompe disease
- Previous symbols and names : 'glucosidase alpha, acid', glucosidase, alpha; acid
- Type : gene with protein product
- Chromosomal location : 17q25.3
- OMIM: 606800
- HGNC: 4065
- UniProtKB: P10253
- Genatlas: GAA
- GenCC: GAA
- Ensembl: ENSG00000171298
- IUPHAR-DB: 2611
- Reactome: P10253
- LOVD: GAA
Diseases list
- Disease-causing germline mutation(s) in Glycogen storage disease due to acid maltase deficiency, infantile onset
ORPHA:308552 
- Disease-causing germline mutation(s) in Glycogen storage disease due to acid maltase deficiency, late-onset
ORPHA:420429
: AssessedAdditional information
Patient-centred resources for this gene
Research activities on this gene
Specialised Social Services
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