Disease:Defects in FANCA are a cause of Fanconi anemia (FA) [MIM:227650]. FA is a genetically heterogeneous , autosomal recessive disorder characterized by progressive pancytopenia , a diverse assortment of congenital malformations , 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. ,Function:DNA repair protein that may operate in a postreplication repair or a cell cycle checkpoint function. May be involved in interstrand DNA cross-link repair and in the maintenance of normal chromosome stability. ,PTM:Phosphorylated upon DNA damage , probably by ATM or ATR. Phosphorylation is required for the formation of the nuclear complex. Not phosphorylated in cells derived from groups A , B , C , E , F , G , and H. ,subcellular location:The major form is nuclear. The minor form is cytoplasmic. ,subunit:Belongs to the multisubunit FA complex composed of FANCA , FANCB , FANCC , FANCE , FANCF , FANCG , FANCL/PHF9 and FANCM. The complex is not found in FA patients. ,
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