Acid alpha-glucosidase
Lua error in Module:Infobox_gene at line 33: attempt to index field 'wikibase' (a nil value). Lysosomal alpha-glucosidase (also called α-1,4-glucosidase[1] and acid maltase[2]) is an enzyme that in humans is encoded by the GAA gene.[2] 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.[2]
References
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Further reading
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