Anti-FANCI (phospho S556) antibody

Supplementary info

This supplementary information is collated from multiple sources and compiled automatically.

Activity summary

FANCI also known as Fanconi anemia group I protein is an important player in DNA repair processes. This protein has a molecular mass of approximately 150 kDa. It is ubiquitously expressed with notable levels found in tissues that undergo high rates of cell division. FANCI participates mechanically within the DNA repair mechanism by interacting directly with DNA alongside its partner protein FANCD2 to form a tight complex that recognizes and binds to sites of DNA damage.

Biological function summary

The FANCI protein acts as part of the multiprotein Fanconi anemia (FA) core complex. This complex Functions in the repair of DNA interstrand crosslinks which are severe forms of DNA damage. Successful function of FANCI is important for maintaining genomic stability and subsequently proper cell cycle progression. It partners with proteins including FANCD2 to coordinate the homologous recombination repair process. Defective FANCI leads to disrupted DNA repair resulting in cellular damage and apoptosis.

Pathways

FANCI plays a major role in the Fanconi anemia pathway and the broader DNA damage response system. The FA pathway which involves over 20 proteins forms a network integral in repairing DNA crosslinks. FANCI tightly interacts with proteins like FANCD2 to initiate DNA repair in response to damage. The successful coordination of these proteins ensures the stability of genetic material throughout the cell cycle affecting cell fate decisions such as survival or apoptosis.

Associated diseases and disorders

FANCI mutations are directly linked to Fanconi anemia a genetic disorder characterized by bone marrow failure and increased cancer risk. Mutations can impair the protein’s function causing defective DNA repair capability. Additionally FANCI's involvement in DNA repair associates it with breast cancer where malfunction or reduced expression of FANCI is observed. The protein interacts with tumor suppressors like BRCA1 and BRCA2 linking it to pathways involved in hereditary breast cancer predisposition.