Aliases for GAA Gene
External Ids for GAA Gene
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. [provided by RefSeq, Jul 2008]
GeneCards Summary for GAA Gene
GAA (Glucosidase, Alpha; Acid) is a Protein Coding gene. Diseases associated with GAA include glycogen storage disease ii and glycogen storage disease due to acid maltase deficiency, late-onset. Among its related pathways are Lysosome and Metabolism. GO annotations related to this gene include carbohydrate binding and maltose alpha-glucosidase activity. An important paralog of this gene is MGAM.
UniProtKB/Swiss-Prot for GAA Gene
Essential for the degradation of glygogen to glucose in lysosomes