Fanconi Anemia Complementation Group D2 (FANCD2)

Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, defective DNA repair and enhancement of TNF-alpha production.

FANCD2 encodes the protein for complementation group D2. This protein is monoubiquitinated in response to DNA damage, resulting in its localization to nuclear foci with other proteins involved in homology-directed DNA repair. Alternative splicing results in two transcript variants encoding different isoforms.A team has shown an in-vitro demonstration of how tobacco smoke suppresses the expression of FANCD2, which codes for a DNA damage "caretaker" or repair mechanism.