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