Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes. Kondo S, Schutte BC, Richardson RJ, Bjork BC, Knight AS, Watanabe Y, Howard E, de Lima RL, Daack-Hirsch S, Sander A, McDonald-McGinn DM, Zackai EH, Lammer EJ, Aylsworth AS, Ardinger HH, Lidral AC, Pober BR, Moreno L, Arcos-Burgos M, Valencia C, Houdayer C, Bahuau M, Moretti-Ferreira D, Richieri-Costa A, Dixon MJ, Murray JC.Nat Genet. 2002 Oct;32(2):285-9. Epub 2002 Sep 3.
Western Blot (Tissue lysate)
IRF6 polyclonal antibody (Cat # PAB6150) staining (0.2 ug/mL) of human ovary lysate (RIPA buffer, 35 ug total protein per lane). Primary incubated for 1 hour. Detected by western blot using chemiluminescence.
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. Mutations in this gene can cause van der Woude syndrome and popliteal pterygium syndrome. This protein is involved in palate formation. [provided by RefSeq