FANCG
Function
DNA repair protein that may operate in a postreplication repair or a cell cycle checkpoint function. May be implicated in interstrand DNA cross-link repair and in the maintenance of normal chromosome stability. Candidate tumor suppressor gene.
Involvement in disease
Fanconi anemia complementation group G
FANCG
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.
Tissue Specificity
Highly expressed in testis and thymus. Found in lymphoblasts.
Cellular localization
- Nucleus
- Cytoplasm
- The major form is nuclear. The minor form is cytoplasmic.
Alternative names
XRCC9, FANCG, Fanconi anemia group G protein, Protein FACG, DNA repair protein XRCC9