aspartoacylase

Symbol

ASPA (may also be known as: None)

Organism

Human

Description

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]

Orthologs

SymbolSpecies
aspa Danio rerio
Aspa Mus musculus
Aspa Rattus norvegicus

Links to external resources

Changes associated with this gene

GO Terms

GO IDGO TermGO Category
GO:0006533 aspartate catabolic process biological_process
GO:0008152 metabolic process biological_process
GO:0022010 central nervous system myelination biological_process
GO:0048714 positive regulation of oligodendrocyte differentiation biological_process
GO:0005634 nucleus cellular_component
GO:0005737 cytoplasm cellular_component
GO:0004046 aminoacylase activity molecular_function
GO:0016788 hydrolase activity, acting on ester bonds molecular_function
GO:0019807 aspartoacylase activity molecular_function
GO:0046872 metal ion binding molecular_function