RFWD3 wt Allele

Preferred Label : RFWD3 wt Allele;

NCIt synonyms : FLJ10520; Ring Finger and WD Repeat Domain 3 wt Allele; FANCW; RNF201;

NCIt definition : Human RFWD3 wild-type allele is located in the vicinity of 16q23.1 and is approximately 45 kb in length. This allele, which encodes E3 ubiquitin-protein ligase RFWD3 protein, plays a role in the modulation of the DNA damage checkpoint of the cell cycle. Biallelic mutations in the gene are associated with Fanconi anemia.;

NCI Metathesaurus CUI : CL525056;

GenBank Accession Number : AK001382;

PubMed : 28691929;

Details

Origin ID

C138091;

UMLS CUI

C4521355;

Automatic exact mappings (from CISMeF team)
- Fanconi anemia, complementation group w [OMIM Phenotype]
- ring finger and WD repeat domain 3 [ORDO Gene]
OMIM relation
- Ring finger and wd repeat domains-containing protein 3 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 16q23.1 [NCIt concept]
gene_plays_role_in_process
- DNA Repair [NCIt concept]
- G1/S Transition Checkpoint [NCIt concept]
- Ubiquitinated Protein Degradation [NCIt concept]
- Ubiquitination [NCIt concept]

Keyword's position in hierarchy(ies) :

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