IRF6
IRF6 (Interferon Regulatory Factor 6) is a protein that in humans is encoded by the IRF6 gene. It is a member of the interferon regulatory factors (IRFs) family of transcription factors, which play an essential role in the regulation of interferon-induced genes that are involved in the immune response.
Function[edit | edit source]
The IRF6 gene belongs to the IRF family, which is characterized by a unique structure consisting of five highly conserved amino acids near the carboxyl terminus. This gene is involved in the epithelial differentiation and is mutated in Van der Woude syndrome and popliteal pterygium syndrome.
Clinical significance[edit | edit source]
Mutations in the IRF6 gene are associated with two similar autosomal dominant conditions, Van der Woude syndrome and popliteal pterygium syndrome. Both conditions are characterized by cleft lip and/or cleft palate, and popliteal pterygium syndrome also includes webbing or fusion of the skin between the legs.
See also[edit | edit source]
References[edit | edit source]
External links[edit | edit source]
- IRF6 at NCBI
- IRF6 at Genetics Home Reference
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Contributors: Prab R. Tumpati, MD
