Acid alpha-glucosidase

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GAA
Identifiers
AliasesGAA, LYAG, glucosidase alpha, acid, alpha glucosidase
External IDsOMIM: 606800 MGI: 95609 HomoloGene: 37268 GeneCards: GAA
Orthologs
SpeciesHumanMouse
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 MbChr 11: 119.16 – 119.18 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Acid alpha-glucosidase, also called acid maltase,[5] is an enzyme 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.[6] In humans, it is encoded by the GAA gene.[5] Errors in this gene cause glycogen storage disease type II (Pompe disease).

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.[5]

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000171298 - Ensembl, May 2017
  2. ^ a b c 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. ^ a b c "Entrez Gene: GAA glucosidase, alpha; acid (Pompe disease, glycogen storage disease type II)".
  6. ^ 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

External links