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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.
, aglucosidase alfa
, lysosomal alpha-glucosidase
, transmembrane and coiled-coil domains protein 1
, acid (Pompe disease, glycogen storage disease type II)
, acid alpha-glucosidase
, glucosidase, alpha; acid (Pompe disease, glycogen storage disease type II)