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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:
  • ACY2,
  • S67156,
  • NM_000049,
  • aminoacylase 2,
  • HGNC:756,
  • ASP,
  • ASP,
  • OTTHUMG00000090655,
  • Canavan disease,
  • uc002fvq.4,
  • ACY2,
  • ASPA,
  • aspartoacylase (aminoacylase 2, Canavan disease)
  • identifiers:
  • 443,
  • ENSG00000108381,
  • ASPA

Genome feature

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


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Function

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Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

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Gene --> GO terms.

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Proteins

Gene --> Proteins.

SNPs

Gene Report --> GWAS hit

Disease

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]

Homology

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Interactions

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Expression

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

Gene Ontology

Gene --> GO terms.

 

Other

3756 SN Ps

5 Cross References

19 Data Sets

4 Homologues

0 Located Features

97 Rna Seq Results