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GAA / Alpha-Glucosidase, Acid is 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.
Gene Name: | glucosidase, alpha; acid |
Synonyms: | GAA, Acid maltase, Aglucosidase alfa, Glucosidase, alpha, Lysosomal alpha-glucosidase, Glucosidase, alpha acid, LYAG |
Target Sequences: | NM_000152 NP_000143.2 P10253 |
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