Acid alpha-glucosidase

Acid alpha-glucosidase, also called α-1,4-glucosidase[5] and acid maltase,[6] is an enzyme (EC 3.2.1.20) that helps to break down glycogen in the lysosome. It is functionally similar to glycogen debranching enzyme, but is on a different chromosome, processed differently by the cell and is located in the lysosome rather than the cytosol.[7] In humans, it is encoded by the GAA gene.[6] Errors in this gene cause glycogen storage disease type II (Pompe disease).

GAA
Identifiers
AliasesGAA, LYAG, glucosidase alpha, acid, alpha glucosidase
External IDsOMIM: 606800 MGI: 95609 HomoloGene: 37268 GeneCards: GAA
Orthologs
SpeciesHumanMouse
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
NP_032090

Location (UCSC)Chr 17: 80.1 – 80.12 MbChr 11: 119.16 – 119.18 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Function

This gene encodes lysosomal 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.[6]

References

  1. GRCh38: Ensembl release 89: ENSG00000171298 - Ensembl, May 2017
  2. GRCm38: Ensembl release 89: ENSMUSG00000025579 - Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. Voet DJ, Voet JG, Pratt CW (2008). "Additional Pathways in Carbohydrate Metabolism". Principles of Biochemistry, Third edition. Wiley. p. 538. ISBN 978-0470-23396-2.
  6. "Entrez Gene: GAA glucosidase, alpha; acid (Pompe disease, glycogen storage disease type II)".
  7. Adeva-Andany MM, González-Lucán M, Donapetry-García C, Fernández-Fernández C, Ameneiros-Rodríguez E (June 2016). "Glycogen metabolism in humans". BBA Clinical. 5: 85–100. doi:10.1016/j.bbacli.2016.02.001. PMC 4802397. PMID 27051594.

Further reading


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