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Genetics Home Reference: your guide to understanding genetic conditions
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IRF6

Reviewed April 2008

What is the official name of the IRF6 gene?

The official name of this gene is “interferon regulatory factor 6.”

IRF6 is the gene's official symbol. The IRF6 gene is also known by other names, listed below.

What is the normal function of the IRF6 gene?

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.

How are changes in the IRF6 gene related to health conditions?

popliteal pterygium syndrome - caused by mutations in the IRF6 gene

Mutations in the IRF6 gene that cause popliteal pterygium syndrome 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.

van der Woude syndrome - caused by mutations in the IRF6 gene

Mutations in the IRF6 gene that cause van der Woude syndrome 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, including cleft lip, cleft palate (an opening in the roof of the mouth), and pits or mounds in the lower lip.

other disorders - increased risk from variations of the IRF6 gene

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, 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.

Where is the IRF6 gene located?

Cytogenetic Location: 1q32.3-q41

Molecular Location on chromosome 1: base pairs 209,785,622 to 209,806,174

The IRF6 gene is located on the long (q) arm of chromosome 1 between positions 32.3 and 41.

The IRF6 gene is located on the long (q) arm of chromosome 1 between positions 32.3 and 41.

More precisely, the IRF6 gene is located from base pair 209,785,622 to base pair 209,806,174 on chromosome 1.

See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.

Where can I find additional information about IRF6?

You and your healthcare professional may find the following resources about IRF6 helpful.

You may also be interested in these resources, which are designed for genetics professionals and researchers.

What other names do people use for the IRF6 gene or gene products?

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

See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What glossary definitions help with understanding IRF6?

cell ; cleft palate ; DNA ; gene ; genitals ; LPS ; palate ; protein ; syndactyly ; syndrome ; transcription ; transcription factor

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (/glossary).

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. (http://www.ncbi.nlm.nih.gov/pubmed/18212048?dopt=Abstract)
  • Gene Review: IRF6-Related Disorders (http://www.ncbi.nlm.nih.gov/books/NBK1407)
  • OMIM: INTERFERON REGULATORY FACTOR 6 (http://omim.org/entry/607199)
  • 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. Epub 2002 Sep 3. (http://www.ncbi.nlm.nih.gov/pubmed/12219090?dopt=Abstract)
  • NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/3664)
  • 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. (http://www.ncbi.nlm.nih.gov/pubmed/17438386?dopt=Abstract)
  • 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. (http://www.ncbi.nlm.nih.gov/pubmed/17318851?dopt=Abstract)

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: April 2008
Published: May 18, 2015