WWOX wt Allele

Preferred Label : WWOX wt Allele;

NCIt synonyms : SDR41C1; WOX1; PRO0128; HHCMA56; D16S432E; SCAR12; FOR; WW Domain Containing Oxidoreductase wt Allele; FRA16D; EIEE28; Short Chain Dehydrogenase/Reductase Family 41C, Member 1 Gene;

NCIt definition : Human WWOX wild-type allele is located in the vicinity of 16q23 and is approximately 1113 kb in length. This allele, which encodes WW domain-containing oxidoreductase protein, is involved in tumor suppression, apoptosis and oxidation/reduction. Mutation of the gene is associated with early infantile epileptic encephalopathy 28, somatic esophageal squamous cell carcinoma, and autosomal recessive spinocerebellar ataxia 12.;

NCI Metathesaurus CUI : CL514380;

GenBank Accession Number : AF187015;

Details

Origin ID

C131549;

UMLS CUI

C4321252;

Automatic exact mappings (from CISMeF team)
- Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency [ORDO Disease]
- WW domain containing oxidoreductase [ORDO Gene]
- Ww domain-containing oxidoreductase [OMIM gene]
OMIM relation
- Ww domain-containing oxidoreductase [OMIM gene]
See also inter- (CISMeF)
- Developmental and epileptic encephalopathy 28 [OMIM Phenotype]
- Spinocerebellar ataxia, autosomal recessive 12 [OMIM Phenotype]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
allele_in_chromosomal_location
- 16q23 [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_plays_role_in_process
- Apoptosis [NCIt concept]
- Oxidation [NCIt concept]
- Oxidation/Reduction [NCIt concept]

Keyword's position in hierarchy(ies) :

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