Gene Symbol | IRF6 |
Entrez Gene ID | 3664 |
Full Name | interferon regulatory factor 6 |
Synonyms | LPS,OFC6,PIT,PPS,PPS1,VWS,VWS1 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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]. |
Disorder MIM: | |
Disorder Html: | van der Woude syndrome, 119300 (3); Popliteal pterygium syndrome 1, 119500 (3); {Orofacial cleft 6}, 608864 (3) |