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 Pompes 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.
GAA; glucosidase, alpha; acid; lysosomal alpha-glucosidase; glycogen storage disease type II; Pompe disease; 70 kDa lysosomal alpha-glucosidase; Acid alpha glucosidase; Acid maltase; Aglucosidase alfa; Alpha glucosidase; Glucosidase alpha acid (Pompe disease glycogen storage disease type II); Glucosidase alpha acid; Glucosidase alpha; LYAG; LYAG_HUMAN; Lysosomal alpha glucosidase