Fanconi Anemia Complementation Group C (FANCC)

Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group C.

The cDNAs encoded alternatively processed transcripts of a new gene, designated FACC, mutated in patients with Fanconi anemia complementation group C. FACC transcripts were detected in a wide variety of tissues and cell lines by use of PCR with reverse-transcribed RNA.