The FANCC gene encodes a product that is involved in the homologous recombination repair of damaged DNA through the Fanconi anaemia (FA) pathway. It does this by forming a multi-subunit complex with FANCA, FANCB, FANCE, FANCF, FANCG, FANCL/PHF9 and FANCM called the FA core complex. This complex ubiquitinates FANCD2 and FANCI, causing them to bind together and attract DNA repair proteins to the area of DNA damage.
Mutations in the FANCC gene impair protein function, thereby affecting the FA core complex and disrupting the FA pathway. This results in inefficient DNA repair and a build-up of inter-strand crosslinks ultimately stalling DNA replication and causing either abnormal cell death or uncontrolled cell growth. Abnormal cell death leads to blood cell shortage and manifests as Fanconi anaemia while uncontrolled cell growth develops into leukemia or other cancers. Mutations in the FANCC gene are therefore associated with Fanconi anaemia, complementation group C. Fanconi anaemia is a rare blood disorder that results in bone marrow failure, organ defects, physical abnormalities and susceptibility to certain cancers.