| umls-concept:C2697656 | skos:definition | NCI: Human IRF6 wild-type allele is located within 1q32.3-q41 and is approximately 18 kb in length. This allele, which encodes interferon regulatory factor 6 protein, is involved in the modulation of transcription. Mutation of the gene is associated with van der Woude syndrome and popliteal pterygium syndrome and genetic variation is a factor in orofacial cleft type 6. | lld:umls |
