Gene Symbol | Aspa |
Entrez Gene ID | 11484 |
Full Name | aspartoacylase |
Synonyms | Acy-2,Acy2,nur7 |
General protein information |
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Gene Type | protein-coding |
Organism | Mus musculus(house mouse) |
Genome | |
Summary | This gene encodes an enzyme that deacteylates N-acetyl-L-aspartic acid (NAA) in the brain to yield acetate and L-aspartate. In humans, alterations in neuronal NAA concentration are associated with many neurodegenerative diseases (decrease associated with epilepsy, multiple sclerosis, myotrophic lateral sclerosis, and Alzheimer's disease; increase associated with Canavan disease). In mouse, mutations in this gene, which cause accumulation of NAA, result in demyelination and spongy degeneration in the CNS and serve as a pathophysiological model for Canavan disease. [provided by RefSeq, Dec 2012]. |