PSEN1

Fanconi anemia (FA) is a genetically inherited disorder that yields cytogenetic instability, hypersensitivity to DNA crosslinking compounds and defective DNA repair. A variety of genes have been identified within the FA pathway that are referred to as the Fanconi anemia complementation group.  One member of this group, FANCD2, is monoubiquitinated in response to DNA damage.  At this point, FANCD2 specifically localizes to the nucleus to represent the site of DNA repair, often times to the DNA replication fork.