| Primary Identifier | IPR026171 | Type | Family |
| Short Name | FANCI |
| description | Fanconi anemia complementation group I (FANCI) protein is a component of the Fanconi anemia DNA damage-response pathway []. The protein directly binds to a variety of DNA substrates []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 [].Defects in the FANCI gene are a cause of Fanconi anemia complementation group I []- 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. |
