This gene belongs to the forkhead family of transcription factors which is characterized by a distinct DNA-binding fork head domain. The specific function of this gene has not yet been determined; however, it has been shown to play a role in the regulation of embryonic and ocular development. Mutations in this gene cause various glaucoma phenotypes including primary congenital glaucoma, autosomal dominant iridogoniodysgenesis anomaly, and Axenfeld-Rieger anomaly.
Nishimura DY, Swiderski RE, Alward WL; et al. (1998). "The forkhead transcription factor gene FKHL7 is responsible for glaucoma phenotypes which map to 6p25". Nat. Genet.19 (2): 140–7. doi:10.1038/493. PMID9620769.
Mirzayans F, Gould DB, Héon E; et al. (2000). "Axenfeld-Rieger syndrome resulting from mutation of the FKHL7 gene on chromosome 6p25". Eur. J. Hum. Genet.8 (1): 71–4. doi:10.1038/sj.ejhg.5200354. PMID10713890.
Wang WH, McNatt LG, Shepard AR; et al. (2001). "Optimal procedure for extracting RNA from human ocular tissues and expression profiling of the congenital glaucoma gene FOXC1 using quantitative RT-PCR". Mol. Vis.7: 89–94. PMID11320352.
Dintilhac A, Bernués J (2002). "HMGB1 interacts with many apparently unrelated proteins by recognizing short amino acid sequences". J. Biol. Chem.277 (9): 7021–8. doi:10.1074/jbc.M108417200. PMID11748221.
Berry FB, Saleem RA, Walter MA (2002). "FOXC1 transcriptional regulation is mediated by N- and C-terminal activation domains and contains a phosphorylated transcriptional inhibitory domain". J. Biol. Chem.277 (12): 10292–7. doi:10.1074/jbc.M110266200. PMID11782474.
Freyaldenhoven BS, Fried C, Wielckens K (2003). "FOXD4a and FOXD4b, two new winged helix transcription factors, are expressed in human leukemia cell lines". Gene294 (1–2): 131–140. doi:10.1016/S0378-1119(02)00702-3. PMID12234674.