The forkhead transcription factor genes FOXC1 (Mf1) and FOXC2 (Mfh1) interact with the Notch signaling pathway and are required for the prepatterning of anterior and posterior domains in the presumptive somites through a putative Notch/Delta/Mesp regulatory loop. The genes have similar, dose-dependent functions, and compensate for each other in the early development of the heart, blood vessels and somites. Both FOXC1 and FOXC2 are expressed in the mesenchyme from which the ocular drainage structures derive. FOXC1 and FOXC2 also interact in kidney and heart development. Mutations in the FOXC1 gene result in Axenfeld-Rieger malformations of the anterior segment of the eye and lead to an increased susceptibility of glaucoma, including juvenile glaucoma. Functional regions in FOXC1 are required for nuclear localization and transcriptional regulation. Specifically, two regions in the FOXC1 forkhead domain, one rich in basic amino acid residues, and a second, highly conserved among all FOX proteins, are necessary for nuclear localization of the FOXC1 protein.
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Protein Aliases: BF-3; Brain factor 3; congenital hydrocephalus; forkhead box C1 protein; forkhead box C2 (MFH-1 mesenchyme forkhead 1); forkhead box C2 (MFH-1, mesenchyme forkhead 1); Forkhead box protein C1; Forkhead box protein C2; forkhead homolog 14; forkhead, Drosophila, homolog-like 14; forkhead, drosophila, homolog-like 7; forkhead-related activator 3; Forkhead-related protein FKHL14; Forkhead-related protein FKHL7; Forkhead-related transcription factor 3; forkhead/winged helix-like transcription factor 7; FREAC-3; HFH-BF-3; Mesenchyme fork head protein 1; mesenchyme forkhead 1; Mesoderm/mesenchyme forkhead 1; MF-1; MFH-1 protein; MFH-1,mesenchyme forkhead 1; myeloid factor-delta; Transcription factor FKH-1; Transcription factor FKH-14
Gene Aliases: ARA; ch; fkh-1; Fkh1; Fkh14; FKHL14; FKHL7; FOXC1; FOXC2; FREAC-3; FREAC3; frkhda; Hfhbf3; IGDA; IHG1; IRID1; LD; Mf1; Mf4; MFH-1; MFH1; RIEG3