{"symbol":"IRF6","synonyms":["PIT","PPS1","PPS","LPS","OFC6","VWS","VWS1"],"name":"interferon regulatory factor 6","description":"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]","ncbiEntrezGeneId":3664,"ncbiEntrezGeneUrl":"http://www.ncbi.nlm.nih.gov/gene/3664","proteins":[{"symbol":"IRF6_HUMAN","href":"/api/1.0/protein/IRF6_HUMAN"}],"hgncRootFamilies":[]}