GAA wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human GAA wild-type allele is located in the vicinity of 17q25.3 and is approximately 18 kb in length. This allele, which encodes lysosomal alpha-glucosidase protein, plays a role in the lysosomal degradation of glycogen. Mutations in the gene are associated with glycogen storage disease 2 (Pompe disease).

**Synonyms:** - Acid Alpha-Glucosidase Gene - Alpha Glucosidase wt Allele - Alpha-1,4-Glucosidase Gene - Alpha-Glucosidase, Acid Gene - Glucosidase Alpha, Acid Gene - Glucosidase, Alpha, Acid Gene - Glycogen Storage Disease Type II Gene - LYAG - Pompe Disease Gene