InterPro domain: IPR026171

Fanconi anemia complementation group I (FANCI) protein is a component of the Fanconi anemia DNA damage-response pathway [ 1 ]. The protein directly binds to a variety of DNA substrates [ 2 ] and plays an essential role in the repair of DNA double-strand breaks by homologous recombination. It is also involved in the repair of interstrand DNA cross-links (ICLs) by promoting FANCD2 monoubiquitination by FANCL [ 3 ].

Defects in the FANCI gene are a cause of Fanconi anemia complementation group I [ 3 ] - a disorder affecting all bone marrow elements and resulting in anemia, leukopenia and thrombopenia. It is associated with cardiac, renal and limb malformations, dermal pigmentary changes, and a predisposition to the development of malignancies. At the cellular level it is associated with hypersensitivity to DNA-damaging agents, chromosomal instability (increased chromosome breakage) and defective DNA repair.

1. FANCI is a second monoubiquitinated member of the Fanconi anemia pathway. Nat. Struct. Mol. Biol. 14, 564-7
2. FANCI protein binds to DNA and interacts with FANCD2 to recognize branched structures. J. Biol. Chem. 284, 24443-52
3. Identification of the Fanconi anemia complementation group I gene, FANCI. Cell. Oncol. 29, 211-8