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IRF6 is 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.
Gene Name: | interferon regulatory factor 6 |
Synonyms: | IRF6, Interferon regulatory factor 6, OFC6, PPS1, VWS, VWS1, IRF-6, LPS, PIT, PPS, Van der Woude syndrome |
Target Sequences: | NM_006147 NP_006138.1 O14896 |
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