FANCE
Description
The FANCE gene encodes a protein that plays a vital role in the Fanconi Anemia (FA) pathway, a complex DNA repair mechanism. This pathway is responsible for repairing DNA damage caused by various factors, including radiation, chemotherapy, and environmental toxins. FANCE protein interacts with other FA proteins to form a complex that monoubiquitinates FANCD2, a key step in the FA pathway. This ubiquitination event allows FANCD2 to accumulate at sites of DNA damage and facilitate the repair process.
Associated Diseases
Did you know?
Mutations in the FANCE gene are responsible for about 5-10% of all Fanconi Anemia cases.