Recombinant Human FANCL protein (Tagged)

Supplementary info

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

Activity summary

FANCL also known as Fanconi anemia group L protein participates in the Fanconi anemia (FA) pathway. It has a molecular mass of about 42 kDa. FANCL expresses in various tissues with notable expression in the bone marrow and blood-forming organs. The protein works mechanically by functioning as an E3 ubiquitin ligase essential for monoubiquitination of FANCD2 and FANCI which is an important step in the FA DNA repair pathway.

Biological function summary

This protein plays a role in DNA damage repair. FANCL is part of a multiprotein FA complex which is responsible for the repair of DNA interstrand crosslinks. The FA complex coordinates the activation and repair processes required to maintain genome stability. It ensures proper cell cycle progression while responding to DNA damage facilitating normal cellular function and development.

Pathways

FANCL is a component of the FA-BRCA pathway and has strong connections with DNA repair processes. This pathway includes interactions with proteins such as BRCA1 and BRCA2 which manage DNA repair to prevent tumorigenesis. FANCL also engages with elements of the homologous recombination repair pathway where it ensures proper DNA repair by managing the ubiquitination processes.

Associated diseases and disorders

Defects in FANCL relate to Fanconi anemia a genetic disorder marked by bone marrow failure and cancer predisposition. The protein's association with BRCA2 also links to hereditary breast and ovarian cancers. These connections highlight FANCL's significance in maintaining genetic integrity and its potential impact on cancer development when impaired.