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.
IRF6 Gene
DefinitionThis section has been translated automatically.
General informationThis section has been translated automatically.
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.
LiteratureThis section has been translated automatically.
- Escobar V et al (1978) The facio-genito-popliteal syndrome. Birth Defects Orig Art Ser XIV(6B): 185-192.
- Frohlich GS et al (1977) Popliteal pterygium syndrome: report of a family. J Pediat 90: 91-93.
- Froster-Iskenius U G (1990) Popliteal pterygium syndrome. J Med Genet. 27: 320-326.
- 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.