IRF6

IRF6 is a gene whose function 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. Family members share a highly-conserved N-terminal helix-turn-helix DNA-binding domain and a less conserved C-terminal protein-binding domain.

Pathology
A mutation of the IRF6 gene can lead to popliteal pterygium syndrome or the related van der Woude syndrome. The phenotypic heterogeneity of these disorders is due to different types of IRF6 mutation. The prevailing explanation among IRF6 researchers 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.