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IRF6Interferon Regulatory Factor 6
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Sull et al demonstrated that the interaction of TGFa and IRF6 may play a role in the occurrence of NSCLP (32).
Irf6 has been implicated in the development of cleft lip and palate, but the changes in Irf6 expression or function that produce the defect have not yet been defined.
(10) In addition, other authors have shown that NOTCH signaling pathway, mediated by Jag2 and IRF6 (transcription interferon regulatory factor 6) function as signaling pathways converging during the process of oral epithelium differentiation during palatogenesis.
The same gene was found to be altered in 7 additional families with VWS where no IRF6 mutations had been found previously.
El papel exacto de IRF6 durante el desarrollo embrionario orofacial no se conoce exactamente, sin embargo se ha detectado una alta expresion en diversas estructuras craneofaciales, incluyendo los bordes mediales de los procesos palatinos durante la fusion, los germenes dentales, los foliculos pilosos y la piel.
As discussed previously, IRF6 is involved in a negative feedback loop with [DELTA]Np63[alpha] that is necessary for the downregulation of [DELTA]Np63[alpha] seen with differentiation [57], and an appropriate balance between these factors is required for the switch between proliferation and differentiation in the normal epidermis [100].
Maher et al., "Interferon regulatory factor 6 (IRF6) gene variants and the risk of isolated cleft lip or palate," The New England Journal of Medicine, vol.
Among more than 20 investigated genes, IRF6, VAX1, and 8q24 locus have a confirmed role in nonsyndromic OC.