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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's 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.
70 kDa lysosomal alpha-glucosidase; 76 kDa lysosomal alpha-glucosidase; acid (Pompe disease, glycogen storage disease type II); acid alpha-glucosidase; acid maltase; Aglucosidase alfa; E430018M07Rik; Gaa; glucosidase alpha, acid; glucosidase, alpha, acid; glucosidase, alpha; acid (Pompe disease, glycogen storage disease type II); LYAG; Lysosomal alpha-glucosidase
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