Forkhead box C1 explained
Forkhead box C1, also known as FOXC1, is a protein which in humans is encoded by the FOXC1 gene.[1] [2] [3]
Function
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.[4]
See also
Notes and References
- Web site: Entrez Gene: FOXC1 forkhead box C1.
- Pierrou S, Hellqvist M, Samuelsson L, Enerbäck S, Carlsson P. Cloning and characterization of seven human forkhead proteins: binding site specificity and DNA bending. EMBO J.. 13. 20. 5002–12. 1994. October. 7957066.
- Nishimura DY, Swiderski RE, Alward WL, Searby CC, Patil SR, Bennet SR, Kanis AB, Gastier JM, Stone EM, Sheffield VC. The forkhead transcription factor gene FKHL7 is responsible for glaucoma phenotypes which map to 6p25. Nat. Genet.. 19. 2. 140–7. 1998. June. 9620769. 10.1038/493.
- Web site: Entrez Gene: FOXC1 forkhead box C1.
