Gene Symbol | FOXC1 |
Entrez Gene ID | 2296 |
Full Name | forkhead box C1 |
Synonyms | ARA,ASGD3,FKHL7,FREAC-3,FREAC3,IGDA,IHG1,IRID1,RIEG3 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | Anterior segment dysgenesis 3, multiple subtypes, 601631 (3); Axenfeld-Rieger syndrome, type 3, 602482 (3) |