ASPA wt Allele

Preferred Label : ASPA wt Allele;

NCIt synonyms : Aspartoacylase wt Allele; Aspartoacylase (Aminoacylase 2, Canavan Disease) Gene; ACY2; ASP; Aminoacylase 2 Gene; Canavan Disease Gene;

NCIt definition : Human ASPA wild-type allele is located in the vicinity of 17p13.2 and is approximately 31 kb in length. This allele, which encodes aspartoacylase protein, is involved in the neurodevelopment of the organ of Corti and the metabolism of acetylated aspartic acid. Mutation of the gene is associated with Canavan disease.;

NCI Metathesaurus CUI : CL1912921;

GenBank Accession Number : S67156;

Details

Origin ID

C192693;

UMLS CUI

C5780770;

OMIM relation
- Aspartoacylase [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 17p13.2 [NCIt concept]
gene_is_element_in_pathway
- Alanine, Aspartate and Glutamate Metabolism Pathway [NCIt concept]
- Histidine Metabolism Pathway [NCIt concept]
gene_plays_role_in_process
- Amino Acid Biosynthesis [NCIt concept]
- Deacetylation [NCIt concept]
- Hydrolysis [NCIt concept]
- Neural Development [NCIt concept]

Keyword's position in hierarchy(ies) :

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