APTX wt Allele

Preferred Label : APTX wt Allele;

NCIt synonyms : EOAHA; Aprataxin wt Allele; AOA; EAOH; AOA1; FHA-HIT; AXA1; Ataxia 1, Early Onset With Hypoalbuminemia Gene;

NCIt definition : Human APTX wild-type allele is located in the vicinity of 9p21.1 and is approximately 139 kb in length. This allele, which encodes aprataxin protein, is involved in DNA repair. Mutation of the gene is associated with ataxia-ocular apraxia type 1.;

NCI Metathesaurus CUI : CL1773859;

GenBank Accession Number : AK000164;

Details

Origin ID

C185698;

UMLS CUI

C5575273;

Automatic exact mappings (from CISMeF team)
- Ataxia oculomotor apraxia [ICD-11 More detail]
- Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia [OMIM Phenotype]
- Ataxia-oculomotor apraxia type 1 [ORDO Disease]
- Autosomal recessive ataxia with oculomotor apraxia type 1 [ICD-11 More detail]
- aprataxin [ORDO Gene]
OMIM relation
- Aprataxin [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_plays_role_in_process
- DNA Binding [NCIt concept]
- DNA Repair [NCIt concept]
- Hydrolysis [NCIt concept]
- Nucleotide Metabolic Process [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients