GAA, NT (GAA, Lysosomal alpha-glucosidase, Acid maltase, Aglucosidase alfa, 76kD lysosomal alpha-glucosidase, 70kD lysosomal alpha-glucosidase) (APC)

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. Applications: Suitable for use in Western Blot, Immunohistochemistry and FLISA. Other applications have not been tested. Recommended Dilutions: Immunohistochemistry...