ASPA, Official Symbol ASPAprovided by HGNC Official Full Name aspartoacylaseprovided by HGNC Primary source HGNC:HGNC:756 See related Ensembl:ENSG00000108381 MIM:608034; AllianceGenome:HGNC:756 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as ASP; ACY2 Summary This gene encodes 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. [provided by RefSeq, Jul 2008] Expression Broad expression in kidney (RPKM 9.3), brain (RPKM 5.6) and 19 other tissues See more Orthologs mouse all