IRF6 : interferon regulatory factor 6

Description

The IRF6 (interferon regulatory factor 6) is a protein-coding gene located on chromosome 1.

The IRF6 gene directs the production of a protein vital for early development. This protein acts as a transcription factor, controlling the activity of specific genes by binding to DNA. It is particularly active in cells that form tissues in the head and face, but also participates in the development of other parts of the body, including the skin and genitals.

The IRF6 protein acts as a transcriptional activator, binding to DNA to regulate gene activity. It plays a crucial role in the balance between keratinocyte proliferation and differentiation, essential for normal skin development. Additionally, it influences mammary epithelial cell proliferation and might regulate the transcription of the WDR65 gene.

IRF6 is also known as LPS, OFC6, PIT, PPS, PPS1, VWS, VWS1.

Associated Diseases

• Cleft lip and alveolus
• Oligodontia
• van der Woude syndrome 1
• Autosomal dominant popliteal pterygium syndrome
• Cleft lip/palate
• Isolated cleft lip
• Popliteal pterygium syndrome
• Orofacial cleft 6, susceptibility to
• Van der Woude syndrome