IRF6 Gene

The IRF6 gene (IRF6 stands for "Interferon Regulatory Factor 6") is a protein-coding gene located on chromosome 1q32.2 and encodes a protein that plays an important role in early embryonic development. Alternative splicing results in multiple transcript variants.

The IRF6 gene encodes a member of the interferon-regulating transcription factor (IRF) family. The family members have a highly conserved N-terminal helix-turn-helix DNA binding domain and a less conserved C-terminal protein binding domain.

Mutations in this gene are associated with the

• van der Woude syndrome
• and
• and popliteal pterygium syndrome (Fèvre-Languepin syndrome).

Furthermore, mutations in this gene are also associated with the

• non-syndromic orofacial clefting type 6.

The encoded protein plays a role in the regulation of keratinocyte proliferation and differentiation.

1. Escobar V et al (1978) The facio-genito-popliteal syndrome. Birth Defects Orig Art Ser XIV(6B): 185-192.
2. Frohlich GS et al (1977) Popliteal pterygium syndrome: report of a family. J Pediat 90: 91-93.
3. Froster-Iskenius U G (1990) Popliteal pterygium syndrome. J Med Genet. 27: 320-326.
4. Huang B et al. (2010) Global characterization of interferon regulatory factor (IRF) genes in vertebrates: glimpse of the diversification in evolution. BMC Immunol 11:22.