Aliases for FOXC1 Gene
External Ids for FOXC1 Gene
Previous HGNC Symbols for FOXC1 Gene
Previous GeneCards Identifiers 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 Axenfeld-Rieger Syndrome, Type 3 and Iridogoniodysgenesis, Type 1. Among its related pathways are Mesodermal Commitment Pathway and Heart Development. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and transcription factor binding. An important paralog of this gene is FOXC2.
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.