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.,
Nucleus. Cytoplasm. The major form is nuclear. The minor form is cytoplasmic.
Cervix,Epithelium,Lymphoblast,Ovary,PCR rescued clones,
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