FANCA
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.
Involvement in disease
Fanconi anemia, complementation group A
FANCA
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.
None
The disease is caused by variants affecting the gene represented in this entry.
Post-translational modifications
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.
Cellular localization
- Nucleus
- Cytoplasm
- The major form is nuclear. The minor form is cytoplasmic.
Alternative names
FAA, FACA, FANCH, FANCA, Fanconi anemia group A protein, Protein FACA