Fanconi Anemia Complementation Group E (FANCE)

FANCE has 10 exons and encodes a novel 536-amino acid protein with 2 potential nuclear localization signals. Three separate mutations were identified, 2 in patients in Turkey and 1 in a patient in Bangladesh.

FANCE protein is part of this nuclear complex, binding both FANCC and FANCD2. Indeed, FANCE is required for the nuclear accumulation of FANCC and provides a critical bridge between the FA complex and FANCD2. Disease-associated FANCC mutants do not bind to FANCE, cannot accumulate in the nucleus and are unable to prevent chromosome breakage.The FACE group is defined as being different from groups A, B, C, and D and may itself be heterogeneous.