| Protein Name | aspartoacylase |
|---|---|
| Organism | Mus musculus |
| Gene ID | 11484 |
| Gene Symbol | Aspa |
| UniProt | Q8R3P0 (ACY2_MOUSE) |
| Relationships |
Total Number of functionally related compound(s) :
14
Total Number of Articles : 22 |
Description |
aspartoacylase |
| Gene 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] |
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| Properties | |