ASPA wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human ASPA wild-type allele is located in the vicinity of 17p13.2 and is approximately 31 kb in length. This allele, which encodes aspartoacylase protein, is involved in the neurodevelopment of the organ of Corti and the metabolism of acetylated aspartic acid. Mutation of the gene is associated with Canavan disease.

**Synonyms:** - ACY2 - ASP - Aminoacylase 2 Gene - Aspartoacylase (Aminoacylase 2, Canavan Disease) Gene - Aspartoacylase wt Allele - Canavan Disease Gene