Aspa - aspartoacylase Gene
Also Known as Acy2; nur7; Acy-2
Species: Mus musculus
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]
Aspa Products (1)
| mRNA | Protein | Name |
|---|---|---|
| NM_023113.5 | NP_075602.2 | aspartoacylase |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables aspartoacylase activity |
IDA
IDA: Inferred from direct assay
|
12706335 | MGI |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
22284616 | MGI |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| involved in acetate metabolic process |
IGI
IGI: Inferred from genetic interaction
|
28077719 | MGI |
| involved in aspartate metabolic process |
IGI
IGI: Inferred from genetic interaction
|
28077719 | MGI |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| is active in cytosol |
IDA
IDA: Inferred from direct assay
|
12706335 | MGI |
| located in cytosol |
IDA
IDA: Inferred from direct assay
|
22284616 | MGI |
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
aspartoacylase |
|