FOXC1

(redirected from FKHL7)

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 ?
Analysis of the genes PAX6 (11p13), PITX2 (or RIEG1) (4p25-26), PITX3 (RIEG/PITX homeobox gene family) (10q25), CYP1B1 (cytochrome P4501B1 gene) (2p22), FKHL7 (Forkhead transcription factor) and B3GALTL gene (13q12.3) revealed no deletions or duplications in these genes.
We also analyzed various mutations in genes that were shown to be linked to the ocular anomaly of Peters' syndrome or involved in eye development (PAX6, PITX2, PITX3, CYP1B1, FKHL7), and no mutations were observed in these genes either.
Mirzayans et al., "Mutations of the forkhead/winged-helix gene, FKHL7, in patients with Axenfeld-Rieger anomaly," American Journal of Human Genetics, vol.
Heon et al., "Axenfeld-Rieger syndrome resulting from mutation of the FKHL7 gene on chromosome 6p25," European Journal of Human Genetics, vol.
Mutations of the forkhead/ winged-helix gene, FKHL7, in patients with Axenfeld -Rieger anomaly.