Gene:
aspartoacylase (aminoacylase 2, Canavan disease)
Description:
The ASPA gene product, aspartoacylase, catalyzes the conversion of N-acetyl_L-aspartic acid (NAA) to aspartate and acetate. NAA is abundant in the brain where hydrolysis by aspartoacylase is thought to help maintain white matter. The ASPA gene product is an NAA scavenger in other tissues. Defects in ASPA cause Canavan disease.