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Protein Page:
FANCC (human)

FANCC DNA repair protein that may operate in a postreplication repair or a cell cycle checkpoint function. May be implicated in interstrand DNA cross-link repair and in the maintenance of normal chromosome stability. Upon IFNG induction, may facilitate STAT1 activation by recruiting STAT1 to IFNGR1. Defects in FANCC are the cause of Fanconi anemia complementation group C (FANCC). 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. Note: This description may include information from UniProtKB.
Chromosomal Location of Human Ortholog: 9q22.3
Cellular Component: cytoplasm; cytosol; nucleoplasm; nucleus
Molecular Function: protein binding
Biological Process: DNA repair; nucleotide-excision repair; protein complex assembly
Disease: Fanconi Anemia, Complementation Group C; Tracheoesophageal Fistula With Or Without Esophageal Atresia
Reference #:  Q00597 (UniProtKB)
Alt. Names/Synonyms: bA80I15.1 (Fanconi anemia, complementation group C, protein); FA3; FAC; FACC; FANCC; Fanconi anemia group C protein; Fanconi anemia, complementation group C; FLJ14675; Protein FACC
Gene Symbols: FANCC
Molecular weight: 63,429 Da
Basal Isoelectric point: 5.77  Predict pI for various phosphorylation states
Select Structure to View Below


Protein Structure Not Found.

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