Aliases for FOXC1 Gene
External Ids for FOXC1 Gene
Previous Symbols for FOXC1 Gene
This gene belongs to the forkhead family of transcription factors which is characterized by a distinct DNA-binding forkhead 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. [provided by RefSeq, Jul 2008]
GeneCards Summary for FOXC1 Gene
FOXC1 (Forkhead Box C1) is a Protein Coding gene. Diseases associated with FOXC1 include iridogoniodysgenesis, type 1 and axenfeld-rieger syndrome, type 3. Among its related pathways are Heart Development and Wnt / Hedgehog / Notch. GO annotations related to this gene include sequence-specific DNA binding transcription factor activity and transcription factor binding. An important paralog of this gene is FOXE3.
UniProtKB/Swiss-Prot for FOXC1 Gene
Binding of FREAC-3 and FREAC-4 to their cognate sites results in bending of the DNA at an angle of 80-90 degrees. Regulates FOXO1 through binding to a conserved element, 5-GTAAACAAA-3 in its promoter region, implicating FOXC1 as an important regulator of cell viability and resistance to oxidative stress in the eye.