FACA/FANCA Proteins and Enzymes

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 ...