FANCC - Fanconi anemia group C protein - human protein (Medical)
 
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FANCC »  Fanconi anemia group C protein  (Protein FACC)
 
Gene name:  FANCC
Entry whose protein(s) existence is based on evidence at protein level
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GENE REF ISO

Displayed isoform: Iso 1

 
 

Medical

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Disease 
Fanconi anemia complementation group C (FANCC) [MIM:227645]: A disorder affecting all bone marrow elements and resulting in anemia, leukopenia and thrombopenia. It is associated with cardiac, renal and limb malformations, dermal pigmentary changes, and a predisposition to the development of malignancies. At the cellular level it is associated with hypersensitivity to DNA-damaging agents, chromosomal instability (increased chromosome breakage) and defective DNA repair. The disease is caused by mutations affecting the gene represented in this entry.  
  • CuratedUniProtKB
According to Orphanet, this protein is involved in the following disease:
Fanconi anemia  84  
 

Keywords

Disease 
Disease mutation  definition   [KW-0225]
Fanconi anemia  definition   [KW-0923]
Technical term 
Reference proteome  definition   [KW-1185]
 

Further external links

Organism-specific databases
CTD: 2176
GeneReviews: FANCC
MIM: 227645
PharmGKB: PA27997
Polymorphism databases
DMDM: 1706762
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.