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IRF6 gene
URL of this page: https://medlineplus.gov/genetics/gene/irf6/

IRF6 gene

interferon regulatory factor 6

Normal Function

The IRF6 gene provides instructions for making a protein that plays an important role in early development. This protein is a transcription factor, which means that it attaches (binds) to specific regions of DNA and helps control the activity of particular genes. The IRF6 protein is active in cells that give rise to tissues in the head and face. It is also involved in the development of other parts of the body, including the skin and genitals.

Health Conditions Related to Genetic Changes

Popliteal pterygium syndrome

Variants (also known as mutations) in the IRF6 gene cause popliteal pterygium syndrome. This condition affects the development of the face, skin, and genitals.

The IRF6 gene variants that cause this condition may change the transcription factor's effects on the activity of certain genes. This affects the development and maturation of tissues in the face, skin, and genitals, resulting in the facial and genital abnormalities, skin webbing, and fusion of the fingers or toes (syndactyly) seen in popliteal pterygium syndrome.

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Van der Woude syndrome

Variants in the IRF6 gene cause van der Woude syndrome. This condition  affects the development of the face and often causes cleft lip, cleft palate (an opening in the roof of the mouth, or both. IRF6 gene variants that cause this condition prevent one copy of the gene in each cell from making any functional protein. A shortage of the IRF6 protein affects the development and maturation of tissues in the skull and face. These abnormalities underlie the signs and symptoms of van der Woude syndrome.

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Other disorders

Certain variations in the IRF6 gene have been associated with increased risk of cleft lip, cleft palate, or both. When these features appear without other signs or symptoms (such as in the conditions described above), the condition is called isolated cleft lip and/or palate. The IRF6 gene variations are believed to affect the function of the IRF6 protein in its role as a transcription factor, which may interfere with the normal development of the face.

Other Names for This Gene

  • IRF6_HUMAN
  • LPS
  • OFC6
  • PIT
  • PPS
  • VWS
  • VWS1

Additional Information & Resources

Tests Listed in the Genetic Testing Registry

Scientific Articles on PubMed

Catalog of Genes and Diseases from OMIM

Gene and Variant Databases

References

  • Bailey CM, Abbott DE, Margaryan NV, Khalkhali-Ellis Z, Hendrix MJ. Interferon regulatory factor 6 promotes cell cycle arrest and is regulated by the proteasome in a cell cycle-dependent manner. Mol Cell Biol. 2008 Apr;28(7):2235-43. doi: 10.1128/MCB.01866-07. Epub 2008 Jan 22. Citation on PubMed or Free article on PubMed Central
  • 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. Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes. Nat Genet. 2002 Oct;32(2):285-9. doi: 10.1038/ng985. Epub 2002 Sep 3. Citation on PubMed or Free article on PubMed Central
  • Mukhopadhyay N, Feingold E, Moreno-Uribe L, Wehby G, Valencia-Ramirez LC, Muneton CPR, Padilla C, Deleyiannis F, Christensen K, Poletta FA, Orioli IM, Hecht JT, Buxo CJ, Butali A, Adeyemo WL, Vieira AR, Shaffer JR, Murray JC, Weinberg SM, Leslie EJ, Marazita ML. Genome-Wide Association Study of Non-syndromic Orofacial Clefts in a Multiethnic Sample of Families and Controls Identifies Novel Regions. Front Cell Dev Biol. 2021 Apr 9;9:621482. doi: 10.3389/fcell.2021.621482. eCollection 2021. Citation on PubMed
  • Park JW, McIntosh I, Hetmanski JB, Jabs EW, Vander Kolk CA, Wu-Chou YH, Chen PK, Chong SS, Yeow V, Jee SH, Park BY, Fallin MD, Ingersoll R, Scott AF, Beaty TH. Association between IRF6 and nonsyndromic cleft lip with or without cleft palate in four populations. Genet Med. 2007 Apr;9(4):219-27. doi: 10.1097/gim.0b013e3180423cca. Citation on PubMed or Free article on PubMed Central
  • Schutte BC, Saal HM, Goudy S, Leslie EJ. IRF6-Related Disorders. 2003 Oct 30 [updated 2021 Mar 4]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2025. Available from http://www.ncbi.nlm.nih.gov/books/NBK1407/ Citation on PubMed
  • Vieira AR, Modesto A, Meira R, Barbosa AR, Lidral AC, Murray JC. Interferon regulatory factor 6 (IRF6) and fibroblast growth factor receptor 1 (FGFR1) contribute to human tooth agenesis. Am J Med Genet A. 2007 Mar 15;143A(6):538-45. doi: 10.1002/ajmg.a.31620. Citation on PubMed or Free article on PubMed Central

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