ⓘ Fanconi anemia, complementation group C

                                     

ⓘ Fanconi anemia, complementation group C

The protein encoded by this gene delays the onset of apoptosis and promotes homologous recombination repair of damaged DNA. Mutations in this gene result in Fanconi anemia.

A nuclear complex containing the protein FANCC, and FANCA, FANCF and FANCG are required for activation of the FANCD2 protein in mono-ubiquitinates isoform. In a normal, not mutant, cells FANCD2 mono-ubiquinated in response to DNA damage. FANCC along with games acts as a substrate adapter for the reaction of activated FANCD2 co-localizes with the BRCA1 protein in breast cancer susceptibility protein by ionizing radiation of the foci and in synaptonemal complexes of meiotic chromosomes. The activated FANCD2 protein can function until the beginning of meiotic recombination, perhaps to prepare for synapsis of chromosomes, or regulate the subsequent events of recombination.

FANCC- / - mutant male and female mice with compromised gametogenesis, leading to significant violation of fertility, a characteristic of Fanconi anemia patients. And man and woman FANCC mutant mice reduced the number of germ cells.