Acid alpha-glucosidase

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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 [1] [2]
Wikidata
View/Edit Human View/Edit Mouse

Lysosomal alpha-glucosidase, also called α-1,4-glucosidase[3] and acid maltase,[4] is an enzyme (EC 3.2.1.20) that in humans is encoded by the GAA gene.[4] Errors in this gene cause glycogen storage disease type II (Pompe disease).

This gene encodes acid alpha-glucosidase, which is essential for the degradation of glycogen to glucose in lysosomes. Different forms of acid alpha-glucosidase are obtained by proteolytic processing. Defects in this gene are the cause of glycogen storage disease II, also known as Pompe disease, which is an autosomal recessive disorder with a broad clinical spectrum. Three transcript variants encoding the same protein have been found for this gene.[4]

References[edit]

  1. ^ "Human PubMed Reference:". 
  2. ^ "Mouse PubMed Reference:". 
  3. ^ Donald J. Voet; Judith G. Voet; Charlotte W. Pratt (2008). "Additional Pathways in Carbohydrate Metabolism". Principles of Biochemistry, Third edition. Wiley. p. 538. ISBN 978-0470-23396-2. 
  4. ^ a b c "Entrez Gene: GAA glucosidase, alpha; acid (Pompe disease, glycogen storage disease type II)". 

External links[edit]

Further reading[edit]