| ASPA |
| LOCUS ID | 443 | ||||||||||
| GENE_SYMBOL | ASPA | ||||||||||
| GENE NAME | aspartoacylase | ||||||||||
| SYNONYMNS | ASP, ACY2 | ||||||||||
| CHROMOSOME | 17 | ||||||||||
| HOMOLOGENE ID | 33 |
| microRNAs | NA | NA |
| GENE SUMMARY |
|---|
| This gene encodes an enzyme that catalyzes the conversion of N-acetyl_L-aspartic acid (A) to aspartate and acetate. A is abundant in the brain where hydrolysis by aspartoacylase is thought to help maintain white matter. This protein is an A scavenger in other tissues. Mutations in this gene cause Cavan disease. Altertively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2008] |
| OBSERVATIONS |
|---|
| Complication | Evidence | PMID |
| Neuropathy | 1. These data suggest that normal hydrolysis of NAA is affected by ASPA activity seen in the type 2 diabetes model mouse and this change is likely to contribute to neuropathy seen in diabetes, if documented also in patients with type 2 diabetes. | 16707098 |