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FANCA (Fanconi anemia group A) protein is a DNA repair protein that may function as a cell cycle checkpoint or in postreplication repair. FANCA may also be important for the maintenance of chromosome stability and reparation of interstrand DNA cross linkages.
Defects in FANCA result in Fanconi Anemia, a genetically heterogeneous autosomal recessive disorder characterized by progressive pancytopenia, diverse congenital malformations, and a predisposition to develop malignancies. At the cellular level it is associated with hypersensitivity to DNA-damaging agents, chromosomal instability (increased chromosome breakage), and defective DNA repair. At the cellular level FANCA defects cause a hypersensitivity to DNA-damaging agents, chromosomal instability, and defective DNA repair.
