FAN1

FAN1 (FA-associated nuclease 1) is a protein that in humans is encoded by the FAN1 gene. It is involved in the repair of DNA interstrand cross-links and plays a crucial role in maintaining genome stability.

Function

FAN1 is a structure-specific DNA repair nuclease that is recruited to DNA damage sites in response to replication stress or DNA interstrand cross-links. The protein is involved in the Fanconi anemia pathway, where it contributes to the repair of interstrand cross-links and promotes cellular survival following DNA damage.

Clinical significance

Mutations in the FAN1 gene have been associated with karyomegalic interstitial nephritis, a rare form of chronic interstitial nephritis. The disease is characterized by enlarged nuclei in the renal tubular cells and progressive renal failure.

In addition, FAN1 mutations have been implicated in susceptibility to colorectal cancer. Studies have shown that individuals with certain FAN1 variants have an increased risk of developing colorectal cancer.

Structure

The FAN1 protein contains a ubiquitin-binding domain (UBD) and a nuclease domain. The UBD is responsible for the protein's recruitment to sites of DNA damage, while the nuclease domain is responsible for its DNA repair activity.

See also

• Fanconi anemia
• DNA repair
• Karyomegalic interstitial nephritis
• Colorectal cancer