Fanconi anemia (FA) is an inherited bone marrow failure syndrome associated with a progressive decline in hematopoietic stem cells, developmental defects, and predisposition to cancer. FANCC is part of the multisubunit Fanconi anemia (FA) complex composed of FANCA, FANCB, FANCC, FANCE, FANCF, FANCG, FANCL/PHF9 and FANCM. FANCC is a primarily nuclear localized DNA repair protein that is believed to function in interstrand DNA cross-link repair and the maintenance of normal chromosome stability. Mutations in FANCC are associated with various aspects of FA. New research shows that FANCC is critical for resistance to DNA cross-linking drug-induced DNA damage in cells patients with myeloproliferative neoplasms. Also, FANCC interacts with the C-terminal-binding protein-1 (CtBP1) involved in transcriptional regulation, including being a negative regulator of Dickkopf-1 (DKK1) expression. This down regulation does not occur in mutations of FANCC, which then leads to up-regulation of DKK1, a molecule involved in hematopoietic malignancies.
Synonyms: Fanconi anemia group C protein, Protein FACC, FANCC
Application: Western Blotting Analysis: 4 µg/mL of a representative lot of this antibody detected FANCC in 10 µg of Mouse brain lysate.Western Blotting Analysis: A representative lot detected FANCC in HeLa cell lysate (Tremblay, C.S., et al. (2008) Blood. 112(5):2062-2070).Immunoprecipitation Analysis: A representative lot immunoprecipitated FANCC from HeLa cell lysate (Tremblay, C.S., et al. (2008) Blood. 112(5):2062-2070).Immunocytochemistry Analysis: A representative lot detected FANCC in HeLa cells (Tremblay, C.S., et al. (2008) Blood. 112(5):2062-2070).