Acid alpha-glucosidase

（重定向自Acid Maltase）

Lysosomal alpha-glucosidase (also called α-1,4-glucosidase and acid maltase) 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.

单词	Acid Maltase
释义	Acid Maltase 英语百科 Acid alpha-glucosidase （重定向自Acid Maltase） Lysosomal alpha-glucosidase (also called α-1,4-glucosidase and acid maltase) 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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