Enables DNA-binding transcription activator activity, RNA polymerase II-specific; RNA polymerase II cis-regulatory region sequence-specific DNA binding activity; and promoter-specific chromatin binding activity. Involved in several processes, including cell surface receptor signaling pathway; endochondral ossification; and regulation of transcription by RNA polymerase II. Acts upstream of or within several processes, including cell surface receptor signaling pathway; circulatory system development; and collagen fibril organization. Located in nucleus. Is expressed in several structures, including alimentary system; central nervous system; embryo mesenchyme; heart; and sensory organ. Used to study buphthalmos. Human ortholog(s) of this gene implicated in Axenfeld-Rieger syndrome; Axenfeld-Rieger syndrome type 3; anterior segment dysgenesis 3; and glaucoma. Orthologous to human FOXC1 (forkhead box C1).
MGI Description
PHENOTYPE: Homozygous mutants are neonatal lethal with congenital hydrocephalus, edema, abnormalities of the eye, skull, axial skeleton, kidney-ureter and cardiovascular systems. Heterozygotes have variable milder defects depending on genetic background. [provided by MGI curators]