Back to discover

GAA

Gene

alpha glucosidase

HGNCHGNC:4065EnsemblENSG00000171298NCBI Gene2548
Locus: gene with protein productLocation: 17q25.3

Also known as

Symbols and names change; identity (the HGNC ID) does not. Previous and alternative forms are kept distinct.

View full nomenclature history (5)
Previous namesglucosidase, alpha; acid, glucosidase alpha, acid
Alias namesglycogen storage disease type II, lysosomal alpha-glucosidase, Pompe disease

Associated diseases

via associated_with

Diseases linked to this gene through the canonical GENE→DISEASE (associated_with) relation, drawn from Open Targets' top-ranked associations by overall score — not the full association set. Disease-level detail lives on each disease's own page.

Glycogen storage disease due to acid maltase deficiency
Glycogen Storage Disease
Diabetes Mellitus, Type 2
Diabetes Mellitus

Drawn from Open Targets’ top 10 associations by overall score for this gene — the subset resolved to a canonical disease. Lower-ranked associations, and diseases not yet canonicalised, are not shown.

Gene family

HGNC gene-group membership.

Glycoside hydrolase family 31

Provenance

HGNCCanonical human gene identity from HGNC (release 2026-07-07), updated 2025-10-17.
Open TargetsGene–disease associations from the Open Targets Platform.