FOXC1 is a protein belonging to the forkhead family of transcription factors which is characterized by a distinct DNA-binding forkhead domain. The specific function of this protein is not known, however, it plays a role in the regulation of FGF19-FGFR4-MAPK pathway to promote both the development and maintenance of anterior segment structures within the eye. Mutations in this gene cause various glaucoma, iridogoniodysgenesis anomaly, Peters anomaly that includes central corneal leukoma, absence of the posterior corneal stroma and Descemetmembrane and Axenfeld-Rieger anomaly characterized by posterior corneal embryotoxon, iris adhesion to the Schwalbe line, hypertelorism, hypoplasia of the malar bones, congenital absence of some teeth and mental retardation.
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Protein Aliases: forkhead box C1 protein; Forkhead box protein C1; forkhead, drosophila, homolog-like 7; forkhead-related activator 3; Forkhead-related protein FKHL7; Forkhead-related transcription factor 3; forkhead/winged helix-like transcription factor 7; FREAC-3; HGNC:3800; myeloid factor-delta
Gene Aliases: ARA; FKHL7; FOXC1; FREAC-3; FREAC3; IGDA; IHG1; IRID1; RIEG3
UniProt ID: (Human) Q12948
Entrez Gene ID: (Human) 2296