Acid alpha-glucosidase
Lysosomal alpha-glucosidase (also called α-1,4-glucosidase[5] and acid maltase[6]) is an enzyme that in humans is encoded by the GAA gene.[6] Errors in this gene cause glycogen storage disease type II (Pompe disease).
References
- ^ a b c GRCh38: Ensembl release 89: ENSG00000171298 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000025579 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ 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.
- ^ a b "Entrez Gene: GAA glucosidase, alpha; acid (Pompe disease, glycogen storage disease type II)".
External links
Further reading
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