Gene data
ASPA- Name
- aspartoacylase
- Type
- protein-coding
- Position
- 3,472,374–3,503,405 (+)
- Aliases
- ACY2, ASP
- Ensembl
- ENSG00000108381
- RefSeq RNA
- NM_000049.4, NM_001128085.1, XM_017024661.2, XM_054316197.1
- RefSeq protein
- NP_000040.1, NP_001121557.1, XP_016880150.1, XP_054172172.1
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].
Gene Ontology
Biological process
Molecular function
protein bindinghydrolase activity, acting on ester bondshydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amideshydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amidesaspartoacylase activityaspartoacylase activityaspartoacylase activityidentical protein binding
Pathways
via MyGene.info
Gene · Ensembl
aspartoacylase
- Symbol
- ASPA
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- 17:3,472,374-3,503,405
- Strand
- Forward (+)
- Assembly
- GRCh38
View on Ensembl →
via Ensembl · EMBL-EBI
Wikidata facts
- Instance of
- gene
Show 9 more facts
- HomoloGene ID
- 33
- found in taxon
- Homo sapiens
- exact match
- identifiers.org/ncbigene/443
- genomic end
- 3503405
- genomic start
- 3375668
- chromosome
- human chromosome 17
- cytogenetic location
- 17p13.2
- genetic association
- Canavan disease
- expressed in
- glomerulus
Sources (7)
via Wikidata · CC0