Primary Identifier | MGI:1859211 | Organism | mouse, laboratory |
Chromosome | 1 | NCBI Gene Number | 54139 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables DNA binding activity and DNA-binding transcription activator activity, RNA polymerase II-specific. Involved in mammary gland epithelial cell differentiation and positive regulation of DNA-templated transcription. Acts upstream of or within several processes, including keratinocyte differentiation; keratinocyte proliferation; and negative regulation of cell population proliferation. Predicted to be located in cytoplasm. 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; cleft palate; orofacial cleft 6; and popliteal pterygium syndrome. Orthologous to human IRF6 (interferon regulatory factor 6). PHENOTYPE: Mice with mutations of Irf6 display craniofacial, limb, and skin defects. [provided by MGI curators] |