Aminoacylase 2 (ACY2)

Aspartoacylase is an enzyme that 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. This protein is an NAA scavenger in other tissues. Mutations in this gene cause Canavan disease. Alternatively spliced transcript variants have been found for this gene. Human ASPA encodes a deduced 313-amino acid protein with a molecular mass of 36 kD. It shares 92% sequence identity with the bovine protein and contains 1 potential N-glycosylation site and 5 phosphorylation sites. Northern blot analysis revealed a single 1.44-kb transcript in liver and an additional 5.4-kb transcript in other tissues tested. Expression of both transcripts was highest in skeletal muscle, followed by kidney and brain.