| Entrez gene ID | | 2548 |
| Official gene symbol | | GAA |
| Full name | | glucosidase, alpha; acid |
| Aliases | | ,LYAG, |
| Gene summary | | 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] |
| Location | | Chromosome: 17 Locus: 17q25.2-q25.3 |
| Gene position | | 78075355 - 78093679 Map Viewer |
| Gene orientation | | plus |
| Gene size | | 18325 bp |
| Gene sequence |
| |
| OMIM ID | | 606800 |
|