FOXC1 forkhead box C1
Gene ID: 2296, updated on 2-Nov-2024Gene type: protein coding
Also known as: ARA; IGDA; IHG1; ASGD3; FKHL7; IRID1; RIEG3; FREAC3; FREAC-3
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]
Associated conditions
| Description | Tests |
|---|---|
| Anterior segment dysgenesis 3 | not available |
| Axenfeld-Rieger syndrome type 3 | not available |
| Polymorphic markers associated with severe oxaliplatin-induced, chronic peripheral neuropathy in colon cancer patients. GeneReviews: Not available |
Copy number response
| Description |
|---|
| Copy number response Triplosensitivity No evidence available (Last evaluated 2020-07-29) ClinGen Genome Curation PageHaploinsufficency Sufficient evidence for dosage pathogenicity (Last evaluated 2020-07-29) ClinGen Genome Curation PagePubMed |
Genomic context
- Location:
- 6p25.3
- Sequence:
- Chromosome: 6; NC_000006.12 (1609915..1613897)
- Total number of exons:
- 1
Variation
| Resource | Links for this gene |
|---|---|
| SNP | Variation Viewer for FOXC1 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.