FOXC1

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]

Description

forkhead box C1

Protein family

Disease related genes, Mapped to UniProt SWISS-PROT, Plasma proteins, Predicted intracellular proteins, Protein evidence (Ezkurdia et al 2014), Transcription factors

Chromosome

6:p25.3 (1609972 - 1613897)

Ensembl ID

ENSG00000054598  (ver. 84.38)

Orthologs

Mouse Foxc1: ENSMUSG00000050295

UniProt

Q12948

neXtProt

NX_Q12948

Human splice variants
Mouse splice variants