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interferon regulatory factor 6
Identifiers
Symbols IRF6; VWS; LPS; OFC6; PPS; PIT
External IDs OMIM607199 MGI1859211 HomoloGene4479 GeneCards: IRF6 Gene
Orthologs
Species Human Mouse
Entrez 3664 54139
Ensembl ENSG00000117595 ENSMUSG00000026638
UniProt O14896 P97431
RefSeq (mRNA) NM_006147 NM_016851
RefSeq (protein) NP_006138 NP_058547
Location (UCSC) Chr 1:
208.03 - 208.05 Mb
Chr 1:
194.98 - 195 Mb
PubMed search [1] [2]

Interferon regulatory factor 6 also known as IRF6 is a protein that in humans is encoded by the IRF6 gene.[1]

Contents

Function

This gene encodes a member of the interferon regulatory transcription factor (IRF) family. Family members share a highly-conserved N-terminal helix-turn-helix DNA-binding domain and a less conserved C-terminal protein-binding domain.[2]

The function of IRF6 is related to the formation of connective tissue, for example that of the palate. This gene encodes a member of the interferon regulatory transcription factor (IRF) family.

Pathology

A mutation of the IRF6 gene can lead to van der Woude syndrome[3] or the related popliteal pterygium syndrome.[4] These disorders are caused by mutations in the IRF6 gene and some of the phenotypic heterogeneity is due to different types of IRF6 mutations.[1] One explanation for this phenotypic variation between syndromes is based on a differential impact on the structure of the dimerized mutant proteins. VWS mutations appear to result in haploinsufficiency while PPS mutations are dominant negative in nature.[5] IRF6 has been shown to play a critical role in keratinocyte development.[6][7] A role for IRF6 in the common forms of cleft lip and palate has also been demonstrated[8] and may explain ~20% of cases of cleft lip only.[9]

See also

References

  1. ^ a b 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 (October 2002). "Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes". Nat. Genet. 32 (2): 285–9. doi:10.1038/ng985. PMID 12219090.  
  2. ^ "Entrez Gene: IRF6". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=3664.  
  3. ^ Van der Woude, A (June 1954). "Fistula labii inferioris congenita and its association with cleft lip and palate". Am. J. Hum. Genet. 6 (2): 244–56. PMID 13158329.  
  4. ^ Gorlin RJ, Sedano HO, Cervenka J (February 1968). "Popliteal pterygium syndrome . A syndrome comprising cleft lip-palate, popliteal and intercrural pterygia, digital and genital anomalies". Pediatrics 41 (2): 503–9. PMID 4384166.  
  5. ^ Little HJ, Rorick NK, Su LI, Baldock C, Malhotra S, Jowitt T, Gakhar L, Subramanian R, Schutte BC, Dixon MJ, Shore P (November 2008). "Mis-sense mutations that cause Van der Woude syndrome and popliteal pterygium syndrome affect the DNA-binding and transcriptional activation functions of IRF6". Hum. Mol. Genet.. doi:10.1093/hmg/ddn381. PMID 19036739.  
  6. ^ Richardson RJ, Dixon J, Malhotra S, Hardman MJ, Knowles L, Boot-Handford RP, Shore P, Whitmarsh A, Dixon MJ (November 2006). "Irf6 is a key determinant of the keratinocyte proliferation-differentiation switch". Nat. Genet. 38 (11): 1329–34. doi:10.1038/ng1894. PMID 17041603.  
  7. ^ Ingraham CR, Kinoshita A, Kondo S, Yang B, Sajan S, Trout KJ, Malik MI, Dunnwald M, Goudy SL, Lovett M, Murray JC, Schutte BC (November 2006). "Abnormal skin, limb and craniofacial morphogenesis in mice deficient for interferon regulatory factor 6 (Irf6)". Nat. Genet. 38 (11): 1335–40. doi:10.1038/ng1903. PMID 17041601.  
  8. ^ Zucchero TM, Cooper ME, Maher BS, Daack-Hirsch S, Nepomuceno B, Ribeiro L, Caprau D, Christensen K, Suzuki Y, Machida J, Natsume N, Yoshiura K, Vieira AR, Orioli IM, Castilla EE, Moreno L, Arcos-Burgos M, Lidral AC, Field LL, Liu YE, Ray A, Goldstein TH, Schultz RE, Shi M, Johnson MK, Kondo S, Schutte BC, Marazita ML, Murray JC (August 2004). "Interferon regulatory factor 6 (IRF6) gene variants and the risk of isolated cleft lip or palate". N. Engl. J. Med. 351 (8): 769–80. doi:10.1056/NEJMoa032909. PMID 15317890.  
  9. ^ Rahimov F, Marazita ML, Visel A, Cooper ME, Hitchler MJ, Rubini M, Domann FE, Govil M, Christensen K, Bille C, Melbye M, Jugessur A, Lie RT, Wilcox AJ, Fitzpatrick DR, Green ED, Mossey PA, Little J, Steegers-Theunissen RP, Pennacchio LA, Schutte BC, Murray JC (November 2008). "Disruption of an AP-2alpha binding site in an IRF6 enhancer is associated with cleft lip". Nat. Genet. 40 (11): 1341–7. doi:10.1038/ng.242. PMID 18836445.  

External links

This article incorporates text from the United States National Library of Medicine, which is in the public domain.

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