Gene:
glucosidase, alpha; acid (Pompe disease, glycogen storage disease type II)
Gene ID:
192199
Symbol:
GAA
Species:
1000
Description:
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.