Aliases for ASPA Gene
External Ids for ASPA Gene
Previous GeneCards Identifiers for ASPA Gene
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]
GeneCards Summary for ASPA Gene
ASPA (Aspartoacylase) is a Protein Coding gene. Diseases associated with ASPA include Canavan Disease and Bardet-Biedl Syndrome 2. Among its related pathways are Metabolism and Viral mRNA Translation. Gene Ontology (GO) annotations related to this gene include hydrolase activity, acting on ester bonds and aminoacylase activity. An important paralog of this gene is ACY3.
UniProtKB/Swiss-Prot for ASPA Gene
Catalyzes the deacetylation of N-acetylaspartic acid (NAA) to produce acetate and L-aspartate. NAA occurs in high concentration in brain and its hydrolysis NAA plays a significant part in the maintenance of intact white matter. In other tissues it act as a scavenger of NAA from body fluids.