help  | about  | cite  | software

Gene : ASPA Homo sapiens

Name  ? aspartoacylase Cytological Location  17p13.2
Brief Description  aspartoacylase
Description  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]
  • synonyms:
  • aspartoacylase (aminoacylase 2, Canavan disease),
  • ASPA,
  • ACY2,
  • Canavan disease,
  • ACY2,
  • S67156,
  • uc002fvq.4,
  • aminoacylase 2,
  • ASP,
  • OTTHUMG00000090655,
  • NM_000049,
  • ASP,
  • HGNC:756
  • identifiers:
  • 443,
  • ENSG00000108381,
  • ASPA

Genome feature

Region: gene ? Length: 29760  
Location: 17:3473646-3503405 Cyto location: 17p13.2

Uni Prot Comments Displayer

Protein Atlas Displayer

Gene Expression Atlas Tissues Displayer

Gene Expression Atlas Diseases Displayer

Publication Counts Displayer

Curated Proteins Displayer


Gene Ontology Displayer

Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]


J Browse Displayer

Gene Structure Displayer

Overlapping Features Displayer

Mouse Alleles Displayer

Gene --> Chromosomal location.

Gene --> GO terms.

Gene --> Overlapping genes.


Gene --> Proteins.


Gene Report --> GWAS hit


1 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]


Homologue Displayer


Cytoscape Network Displayer

Gene --> Physical and Genetic Interactions


Gene(s) --> Significant SNPs (GTex data)

Gene Ontology

Gene --> GO terms.



3740 SN Ps

5 Cross References

18 Data Sets

3 Homologues

0 Located Features

97 Rna Seq Results