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Acid alpha-glucosidase

GAA
Identifiers
Aliases GAA, LYAG, glucosidase alpha, acid
External IDs OMIM: 606800 MGI: 95609 HomoloGene: 37268 GeneCards: GAA
RNA expression pattern
PBB GE GAA 202812 at fs.png
More reference expression data
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_000152
NM_001079803
NM_001079804

NM_001159324
NM_008064

RefSeq (protein)

NP_000143
NP_001073271
NP_001073272

NP_001152796
NP_032090

Location (UCSC) Chr 17: 80.1 – 80.12 Mb Chr 11: 119.27 – 119.29 Mb
PubMed search

NM_000152
NM_001079803
NM_001079804

NM_001159324
NM_008064

NP_000143
NP_001073271
NP_001073272

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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Wikipedia

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