| Product description |
Rabbit polyclonal to IRF6Interferon regulatory factor 6 (IRF6) belongs to a family of 9 transcription factors that share a highly conserved helix-turn-helix DNA-binding domain and a less conserved protein binding domain. This domain, called SMIR (for SMAD IRF-binding domain), is also found in IRF3 and IRF7. Other interferon regulatory factors include IRF1 on 5q, IRF2 on 4q, IRF3 on 19q, and IRF4 on 6p. Most IRFs regulate the expression of interferon-alpha and -beta after viral infection. Mutation in the IRF6 gene can cause van der Woude syndrome and popliteal pterygium syndrome. VWS is an autosomal dominant form of cleft lip and palate associated with lip pits, and is the most common syndromic form of cleft lip or palate. PPS is a disorder with a similar orofacial phenotype that also includes skin and genital anomalies. |