FANCC
Developmental stage
Expression increases during S phase, is maximal at the G2/M transition, and declines during M phase (at protein level).
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. Upon IFNG induction, may facilitate STAT1 activation by recruiting STAT1 to IFNGR1.
Involvement in disease
Fanconi anemia complementation group C
FANCC
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
Ubiquitous.
Cellular localization
- Nucleus
- Cytoplasm
- The major form is nuclear. The minor form is cytoplasmic.
Alternative names
FAC, FACC, FANCC, Fanconi anemia group C protein, Protein FACC