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]
Function
DNA binding; protein binding; regulatory region DNA binding; sequence-specific DNA binding transcription factor activity;
Synonyms
IRF6; interferon regulatory factor 6; LPS, Van der Woude syndrome , VWS; OFC6; VWS1; LPS; PIT; PPS; VWS;
Citations
Publication ()
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