FOXC1

FOXC1

A gene on chromosome 6p25 that encodes a member of the forkhead family of transcription factors, which plays a role in regulating ocular and embryonic development.

Molecular pathology
FOXC1 mutations are linked to primary congenital glaucoma, autosomal dominant iridogoniodysgenesis anomaly and Axenfeld-Rieger anomaly.
References in periodicals archive ?
At present, she is working in the Women's Cancer Program laboratory at the Samuel Oschin Cancer Center, investigating the role of FOXC1 in ovarian cancer metastasis and invasion.
It is likely that this effect is mediated by EZH2 epigenetic modulation of key molecules mediating cell invasion and metastasis, including micro-RNAs, CDH1, FOXC1, and RK1P.
Abbreviations: FOXC1, forkhead box C1; H3K27me3, H3K27 trimethylation; miRNAs, microRNAs; PAX8, paired box gene 8; PRC2, polycomb repressive complex 2; PSP94, prostate secretory protein of 94 amino acids; Rap1, Ras-proximate-1 or Ras-related protein 1; Rap1GAP, Rap1 GTPase-activating protein; RKIP, Raf-1 kinase inhibitor protein; RUNX3, Runt-related transcription factor 3 gene.
FOXC1, a target of polycomb, inhibits metastasis of breast cancer cells.
3 AR Corneal opacity PAX6 11p13 AD PITX2 4q25 AD FOXC1 6p25.
The gene called FOXC1 is believed to contribute to Dandy-Walker malformation (DWM), a brain defect that occurs in 1 of every 5,000 births.
According to study co-author Dr Kathleen Millen, assistant professor of human genetics at the University of Chicago, FOXC1 is expressed in foetal tissue called mesenchyme.
In the developing foetus, FOXC1 acts as a "master regulator" that controls the expression of other genes, which, in turn, give instructions necessary for the adjacent embryonic brain to properly form.
After finding the importance of the FOXC1 gene in cerebellar development in studies conducted over mice, the researchers then searched for humans lacking all or part of the gene.
Millen and colleagues, along with Ordan Lehmann, associate professor of ophthalmology and medical genetics at the University of Alberta, found 11 such patients with pediatric-onset glaucoma caused by FOXC1.
Further analysis showed that cerebellar abnormalities that proved the involvement of FOXC1 in Dandy-Walker malformation.
FOXC1 is a potential prognostic biomarker with functional significance in basal-like breastcancer.