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.
Biological Context
Subcellular Location: Nucleus; Cytoplasm
Tissue Specificity: Ubiquitous
Disease Association: 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. [The disease is caused by variants affecting the gene represented in this entry]
Product Specifications
Mouse anti-Human sapiens (Human) FANCC Monoclonal Antibody is a recombinant protein. Suitable for ELISA and Western Blot applications. Explore more Antibody products →
