Forkhead box C1

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Forkhead box C1
Protein FOXC1 PDB 1d5v.png
PDB rendering based on 1d5v.
Available structures
PDB Ortholog search: PDBe, RCSB
Identifiers
Symbols FOXC1 ; ARA; FKHL7; FREAC-3; FREAC3; IGDA; IHG1; IRID1; RIEG3
External IDs OMIM601090 MGI1347466 HomoloGene20373 GeneCards: FOXC1 Gene
RNA expression pattern
PBB GE FOXC1 213260 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 2296 17300
Ensembl ENSG00000054598 ENSMUSG00000050295
UniProt Q12948 Q61572
RefSeq (mRNA) NM_001453 NM_008592
RefSeq (protein) NP_001444 NP_032618
Location (UCSC) Chr 6:
1.61 – 1.61 Mb
Chr 13:
31.81 – 31.81 Mb
PubMed search [1] [2]

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

Function[edit]

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[edit]

References[edit]

  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. PMC 395442. PMID 7957066. 
  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. doi:10.1038/493. PMID 9620769. 

Further reading[edit]

External links[edit]

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