Alpha-1,4-glucosidase

GAA
Identifiers
Aliases	GAA, LYAG, glucosidase alpha, acid
External IDs	OMIM: 606800 MGI: 95609 HomoloGene: 37268 GeneCards: GAA
Gene ontology Molecular function • hydrolase activity, hydrolyzing O-glycosyl compounds • hydrolase activity, acting on glycosyl bonds • maltose alpha-glucosidase activity • catalytic activity • hydrolase activity • carbohydrate binding • oligo-1,6-glucosidase activity • alpha-1,4-glucosidase activity Cellular component • membrane • lysosomal membrane • lysosomal lumen • lysosome • extracellular exosome • plasma membrane • azurophil granule membrane • tertiary granule membrane • ficolin-1-rich granule membrane • integral component of membrane Biological process • vacuolar sequestering • cardiac muscle contraction • muscle cell cellular homeostasis • neuromuscular process controlling posture • locomotory behavior • neuromuscular process controlling balance • regulation of the force of heart contraction • diaphragm contraction • heart morphogenesis • maltose metabolic process • glycogen catabolic process • sucrose metabolic process • tissue development • glycogen metabolic process • metabolic process • lysosome organization • striated muscle contraction • glucose metabolic process • carbohydrate metabolic process • neutrophil degranulation Sources:Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	2548	14387
Ensembl	ENSG00000171298	ENSMUSG00000025579
UniProt	P10253	P70699
RefSeq (mRNA)	NM_000152 NM_001079803 NM_001079804	NM_001159324 NM_008064
RefSeq (protein)	NP_000143 NP_001073271 NP_001073272	NP_001152796.1 NP_032090.3 NP_001152796 NP_032090
Location (UCSC)	Chr 17: 80.1 – 80.12 Mb	Chr 11: 119.27 – 119.29 Mb
PubMed search

2548

14387

ENSG00000171298

ENSMUSG00000025579

P10253

P70699

NM_000152
NM_001079803
NM_001079804

NM_001159324
NM_008064

NP_000143
NP_001073271
NP_001073272

NP_001152796.1
NP_032090.3
NP_001152796
NP_032090

Lysosomal alpha-glucosidase, also called α-1,4-glucosidase and acid maltase, is an enzyme (EC 3.2.1.20) that in humans is encoded by the GAA gene. Errors in this gene cause glycogen storage disease type II (Pompe disease).

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