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]
Forensic Context
A study in humans using single-cell and bulk RNA sequencing identified FOXC1 as a predicted transcriptional regulator of key hub proteins in cardiomyopathy, with an area under the curve of 0.683 in receiver operating characteristic analysis, indicating its diagnostic and prognostic potential [Rahman et al. DOI:10.1038/s41598-024-78011-3]. A study in mice demonstrated that the FOXC1 mRNA was up-regulated 2.69-fold in bone marrow cells 6 hours after 6.5 Gy whole-body ionizing radiation [Dai et al. DOI:10.1080/09553000600857389].