IRF6
Function
Probable DNA-binding transcriptional activator. Key determinant of the keratinocyte proliferation-differentiation switch involved in appropriate epidermal development (By similarity). Plays a role in regulating mammary epithelial cell proliferation (By similarity). May regulate WDR65 transcription (By similarity).
Involvement in disease
Van der Woude syndrome 1
VWS1
An autosomal dominant developmental disorder characterized by lower lip pits, cleft lip and/or cleft palate.
None
The disease is caused by variants affecting the gene represented in this entry.
Popliteal pterygium syndrome
PPS
An autosomal dominant disorder characterized by oro-facial, skin and genital anomalies. Expressivity is variable. Clinical features include cleft lip/palate, lower lip cysts, syngnathia, congenital ankyloblepharon filiforme in some cases, bifid scrotum, hypoplastic scrotum, hypoplastic uterus, talipes equinovarus.
None
The disease is caused by variants affecting the gene represented in this entry.
Non-syndromic orofacial cleft 6
OFC6
A birth defect consisting of cleft lips with or without cleft palate. Cleft lips are associated with cleft palate in two-third of cases. A cleft lip can occur on one or both sides and range in severity from a simple notch in the upper lip to a complete opening in the lip extending into the floor of the nostril and involving the upper gum.
None
Disease susceptibility is associated with variants affecting the gene represented in this entry.
Post-translational modifications
Phosphorylated. Phosphorylation status depends on the cell cycle and is a signal for ubiquitination and proteasome-mediated degradation.
Sequence Similarities
Belongs to the IRF family.
Tissue Specificity
Expressed in normal mammary epithelial cells. Expression is reduced or absent in breast carcinomas.
Cellular localization
- Nucleus
- Cytoplasm
- Translocates to nucleus in response to an activating signal.
Alternative names
Interferon regulatory factor 6, IRF-6, IRF6