FANCF

FANCF is a protein that plays a crucial role in DNA repair and genome stability. It is a component of the FA (Fanconi anemia) core complex, which is involved in the recognition and repair of DNA interstrand crosslinks (ICLs). FANCF is encoded by the FANCF gene, which is located on chromosome 16q24.3. Mutations in the FANCF gene are associated with Fanconi anemia, a rare genetic disorder characterized by bone marrow failure, developmental abnormalities, and an increased risk of cancer.

The FANCF protein contains several functional domains, including a FANC domain, a C-terminal domain, and a coiled-coil domain. The FANC domain is responsible for the interaction with other FA core complex proteins, while the C-terminal domain is involved in the recognition of ICLs. The coiled-coil domain mediates the interaction with the FANCM protein, which is essential for the assembly of the FA core complex.

FANCF is expressed in various tissues, including bone marrow, liver, and kidney. Its expression is regulated by several transcription factors, including p53 and NF-kB. The regulation of FANCF expression is important for maintaining genome stability and preventing the development of cancer.

In summary, FANCF is a protein that plays a critical role in DNA repair and genome stability. Mutations in the FANCF gene are associated with Fanconi anemia, a rare genetic disorder. The FANCF protein contains several functional domains that are involved in the recognition and repair of DNA interstrand crosslinks. Its expression is regulated by several transcription factors, and its function is essential for maintaining genome stability and preventing the development of cancer.