IRF6, Official Symbol IRF6provided by HGNC Official Full Name interferon regulatory factor 6provided by HGNC Primary source HGNC:HGNC:6121 See related Ensembl:ENSG00000117595 MIM:607199; AllianceGenome:HGNC:6121 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as LPS; PIT; PPS; VWS; OFC6; PPS1; VWS1 Summary This gene encodes a member of the interferon regulatory transcription factor (IRF) family. Family members share a highly-conserved N-terminal helix-turn-helix DNA-binding domain and a less conserved C-terminal protein-binding domain. The encoded protein may be a transcriptional activator. Mutations in this gene can cause van der Woude syndrome and popliteal pterygium syndrome. Mutations in this gene are also associated with non-syndromic orofacial cleft type 6. Alternate splicing results in multiple transcript variants.[provided by RefSeq, May 2011] Expression Broad expression in skin (RPKM 34.2), esophagus (RPKM 31.3) and 19 other tissues See more Orthologs mouse all