IRF 6

Role in the organism:

The IRF6 gene encodes a transcription factor, a protein that binds to DNA to control gene expression. Expression of this gene starts in the embryo along the edges of the palate that coalesce, in the beginnings of teeth and hair follicles, in the skin and also in the genitals. The exact function of the transcription factor is unclear, but it seems to be very important for the proper development of the structures mentioned.

Role in the disorder (state):

Certain mutations in the IRF6 gene can cause Woude's syndrome, which is characterized by cleft lip, cleft palate, and other lip malformations. Other types of mutations cause marionette pterygium syndrome, which is similar to van der Woude syndrome but includes skin and genital defects. The characteristics of these syndromes are correlated with the embryonic expression of the IRF6 locus, confirming its important role in development.