Preferred Label : FANCB wt Allele;
NCIt synonyms : FACB; FAB; FAAP95; FAAP90; FA2; FLJ34064; Fanconi Anemia-Associated Polypeptide, 95-kD Gene; Fanconi Anemia, Complementation Group B Gene; Fanconi Anemia Complementation Group B Gene; FA Complementation Group B wt Allele;
NCIt definition : Human FANCB wild-type allele is located in the vicinity of Xp22.2 and is approximately
30 kb in length. This allele, which encodes Fanconi anemia group B protein, may be
involved in the modulation of both protein ubiquitination and DNA repair. Mutation
of the gene is associated with Fanconi anemia.;
NCIt note : Mutation of the FANCB gene is associated with X-linked VACTERL-H also known as X-linked
VACTERL association with hydrocephalus syndrome. VACTERL is an acronym for vertebral
anomalies, anal atresia, cardiac malformations, tracheoesophageal fistula, renal anomalies
(urethral atresia with hydronephrosis), and limb anomalies (hexadactyly, humeral hypoplasia,
radial aplasia, and proximally placed thumb). (UniProt);
GenBank Accession Number : AK091383;
Origin ID : C86023;
UMLS CUI : C2828027;
OMIM relation
- Semantic type(s)
- concept_is_in_subset
- gene_found_in_organism
- gene_in_chromosomal_location
- gene_involved_in_pathogenesis_of_disease
- gene_plays_role_in_process
