FOXC1 - Forkhead box protein C1 - human protein (Medical)
 
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Protein
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FOXC1 »  Forkhead box protein C1
 
Protein also known as:  Forkhead-related transcription factor 3 (FREAC-3).
Gene name:  FOXC1
Entry whose protein(s) existence is based on evidence at protein level
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1 79 1
GENE REF ISO

Displayed isoform: Iso 1

 
 

Medical

 show evidences
Disease 
Axenfeld-Rieger syndrome 3 (RIEG3) [MIM:602482]: An autosomal dominant disorder of morphogenesis that results in abnormal development of the anterior segment of the eye, and results in blindness from glaucoma in approximately 50% of affected individuals. Features include posterior corneal embryotoxon, prominent Schwalbe line and iris adhesion to the Schwalbe line, hypertelorism, hypodontia, sensorineural deafness, redundant periumbilical skin, and cardiovascular defects such as patent ductus arteriosus and atrial septal defect. When associated with tooth anomalies, the disorder is known as Rieger syndrome. The disease is caused by mutations affecting the gene represented in this entry.  
  • CuratedUniProtKB
Iridogoniodysgenesis anomaly (IGDA) [MIM:601631]: Autosomal dominant phenotype characterized by iris hypoplasia, goniodysgenesis, and juvenile glaucoma. The disease is caused by mutations affecting the gene represented in this entry.  
  • CuratedUniProtKB
Peters anomaly (PAN) [MIM:604229]: Consists of a central corneal leukoma, absence of the posterior corneal stroma and Descemet membrane, and a variable degree of iris and lenticular attachments to the central aspect of the posterior cornea. The disease is caused by mutations affecting the gene represented in this entry.  
  • CuratedUniProtKB
According to Orphanet, this protein is involved in the following diseases:
Axenfeld anomaly  98978  
Axenfeld-Rieger syndrome  782  
Peters anomaly  708  
Rieger anomaly  91483  
 

Keywords

Disease 
Deafness  definition   [KW-0209]
Disease mutation  definition   [KW-0225]
Peters anomaly  definition   [KW-1059]
Technical term 
Reference proteome  definition   [KW-1185]
 

Further external links

Organism-specific databases
CTD: 2296
MIM: 601631
MIM: 604229
MIM: 602482
PharmGKB: PA28217
Polymorphism databases
DMDM: 13638267
Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.