FOXC1 Antibody – Rabbit Polyclonal

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]

FOXC1: Binding of FREAC-3 and FREAC-4 to their cognate sites results in bending of the DNA at an angle of 80-90 degrees. Monomer. Expressed in all tissues and cell lines examined.

Protein type: Transcription factor; Cell development/differentiation; DNA-binding; Cell cycle regulation

Chromosomal Location of Human Ortholog: 6p25

Cellular Component: nucleoplasm; cytoplasm; nuclear heterochromatin; nucleus

Molecular Function: RNA polymerase II transcription factor activity, enhancer binding; protein binding; DNA binding; sequence-specific DNA binding; transcription factor binding; DNA bending activity; transcription factor activity

Biological Process: transcription from RNA polymerase II promoter; collagen fibril organization; neural crest cell development; glycosaminoglycan metabolic process; paraxial mesoderm formation; positive regulation of transcription, DNA-dependent; heart development; cardiac muscle cell proliferation; ovarian follicle development; regulation of transcription, DNA-dependent; ureteric bud development; germ cell migration; ventricular cardiac muscle morphogenesis; negative regulation of mitotic cell cycle; lacrimal gland development; regulation of blood vessel size; skeletal development; mesenchymal cell development; ossification; somitogenesis; Notch signaling pathway; cell migration; camera-type eye development; in utero embryonic development; regulation of organ growth; odontogenesis of dentine-containing teeth; cell proliferation; eye development; artery morphogenesis; embryonic heart tube development; blood vessel remodeling; positive regulation of transcription from RNA polymerase II promoter; brain development; vascular endothelial growth factor receptor signaling pathway; lymph vessel development

Disease: Axenfeld-rieger Syndrome, Type 3; Iridogoniodysgenesis, Type 1