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Forkhead box C1

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Forkhead box C1

Forkhead box C1

PDB rendering based on 1d5v.
Available structures
PDB Ortholog search: PDBe, RCSB
Identifiers
Symbols  ; ARA; FKHL7; FREAC-3; FREAC3; IGDA; IHG1; IRID1; RIEG3
External IDs GeneCards:
RNA expression pattern
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)
RefSeq (protein)
Location (UCSC)
PubMed search

Forkhead box C1, also known as FOXC1, is a protein which in humans is encoded by the FOXC1 gene.[1][2][3]

Function

This gene belongs to the forkhead family of transcription factors which is characterized by a distinct DNA-binding fork head 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.[1]

See also

References

  1. ^ a b "Entrez Gene: FOXC1 forkhead box C1". 
  2. ^ Pierrou S, Hellqvist M, Samuelsson L, Enerbäck S, Carlsson P (October 1994). "Cloning and characterization of seven human forkhead proteins: binding site specificity and DNA bending". EMBO J. 13 (20): 5002–12.  
  3. ^ Nishimura DY, Swiderski RE, Alward WL, Searby CC, Patil SR, Bennet SR, Kanis AB, Gastier JM, Stone EM, Sheffield VC (June 1998). "The forkhead transcription factor gene FKHL7 is responsible for glaucoma phenotypes which map to 6p25". Nat. Genet. 19 (2): 140–7.  

Further reading

External links

This article incorporates text from the United States National Library of Medicine, which is in the public domain.



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