Glucosidase Alpha, Acid (GaA)

LYAG; Acid Alpha-Glucosidase; Lysosomal Alpha-Glucosidase; Pompe Disease Glycogen Storage Disease Type II; Acid Maltase; Aglucosidase Alfa

SPN	W550
HGNC	4065
MGI	95609
PubMed	8552676
RGD	735227
UniProt	P10253
Wiki	GAA

Lysosomal alpha-glucosidase is an enzyme that is encoded by the GAA gene. Error's 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.

Reference

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