FNC1

FNC1, also known as FANCD1, is a gene located on chromosome 16q24.3. It encodes a protein involved in the Fanconi anemia (FA) pathway, which is crucial for DNA repair and genome stability. Mutations in FNC1 are associated with Fanconi anemia, a rare genetic disorder characterized by bone marrow failure, developmental delays, and an increased risk of cancer. The FNC1 protein plays a role in the repair of DNA interstrand crosslinks, which are harmful lesions that can occur during DNA replication or exposure to certain chemicals. The FA pathway involves multiple proteins, including FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ, and FANCL, all of which are essential for the repair of DNA damage. Individuals with FNC1 mutations may require lifelong medical care and monitoring to manage the symptoms and complications associated with Fanconi anemia. Research into the FA pathway and the development of targeted therapies for FA-related disorders continues to be an active area of study in the field of genetics and oncology.