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Reconstitute with 0.2 mL of distilled water to yield a concentration of 500 µg/mL.
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.
仅用于科研。不用于诊断过程。未经明确授权不得转售。
蛋白别名: Acid maltase; Aglucosidase alfa; Lysosomal alpha-glucosidase
基因别名: GAA; LYAG
UniProt ID: (Human) P10253
Entrez Gene ID: (Human) 2548