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MGP000226

UniProt Annotations

Entry Information
Gene Nameaspartoacylase
Protein EntryACY2_HUMAN
UniProt IDP45381
SpeciesHuman
Comments
Comment typeDescription
Catalytic ActivityN-acyl-L-aspartate + H(2)O = a carboxylate + L-aspartate. {ECO:0000269|PubMed:17027983}.
CofactorName=Zn(2+); Xref=ChEBI:CHEBI:29105; Evidence={ECO:0000269|PubMed:17194761, ECO:0000269|PubMed:18293939}; Note=Binds 1 zinc ion per subunit. {ECO:0000269|PubMed:17194761, ECO:0000269|PubMed:18293939};
DiseaseCanavan disease (CAND) [MIM:271900]: A rare neurodegenerative condition of infancy or childhood characterized by white matter vacuolization and demyelination that gives rise to a spongy appearance. The clinical features are onset in early infancy, atonia of neck muscles, hypotonia, hyperextension of legs and flexion of arms, blindness, severe mental defect, megalocephaly, and death by 18 months on the average. {ECO:0000269|PubMed:10407784, ECO:0000269|PubMed:10564886, ECO:0000269|PubMed:10909858, ECO:0000269|PubMed:12205125, ECO:0000269|PubMed:12638939, ECO:0000269|PubMed:7599639, ECO:0000269|PubMed:7668285, ECO:0000269|PubMed:8023850, ECO:0000269|PubMed:8252036, ECO:0000269|PubMed:8659549, ECO:0000269|PubMed:9452117}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionCatalyzes 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.
SimilarityBelongs to the AspA/AstE family. Aspartoacylase subfamily. {ECO:0000305}.
Subcellular LocationCytoplasm. Nucleus {ECO:0000250}.
SubunitHomodimer. {ECO:0000305|PubMed:17194761, ECO:0000305|PubMed:18293939}.
Tissue SpecificityBrain white matter, skeletal muscle, kidney, adrenal glands, lung and liver.
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