Matches in DBpedia 2014 for { ?s ?p Lysosomal alpha-glucosidase (also called α-1,4-glucosidase) is an enzyme that in humans is encoded by the GAA gene. 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.. }
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- Acid_alpha-glucosidase abstract "Lysosomal alpha-glucosidase (also called α-1,4-glucosidase) is an enzyme that in humans is encoded by the GAA gene. 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.".