Irf6 - interferon regulatory factor 6 Gene

Enables DNA binding activity and DNA-binding transcription activator activity, RNA polymerase II-specific. Involved in positive regulation of transcription, DNA-templated. Acts upstream of or within several processes, including epithelial cell differentiation; keratinocyte proliferation; and roof of mouth development. Predicted to be located in cell junction; cytosol; and nucleoplasm. Predicted to be active in nucleus. Is expressed in several structures, including alimentary system; genitourinary system; non-neural ectoderm; sensory organ; and skin. Used to study Van der Woude syndrome; cleft lip; and popliteal pterygium syndrome. Human ortholog(s) of this gene implicated in several diseases, including Van der Woude syndrome; cleft lip; orofacial cleft 6; popliteal pterygium syndrome; and syndactyly. Orthologous to human IRF6 (interferon regulatory factor 6). [provided by Alliance of Genome Resources, Apr 2022]