Fanconi anemia complementation group L protein (FANCL)

Fanconi anemia complementation group L protein (FANCL) is an E3 ubiquitin ligase that is a core component of the Fanconi anemia (FA) DNA repair pathway. It is essential for the monoubiquitination of FANCD2 and FANCI, two pivotal steps in the repair of interstrand DNA cross-links[1][2][3][6]. FANCL acts as the catalytic subunit of the FA core complex, facilitating the attachment of ubiquitin to downstream effectors, thereby promoting recruitment of DNA repair machinery to sites of damage[1][6]. Mutations in FANCL cause Fanconi anemia complementation group L, a rare genetic disorder characterized by increased genomic instability, cancer predisposition, and bone marrow failure[2][3]. As part of the broader FA core complex, FANCL's activity is critical for normal cell cycle progression and genomic maintenance under conditions of DNA damage[1][2][3]. There are currently no approved drugs that directly target FANCL, and clinical utility as a drug target has not been established, although it is a molecular biomarker for Fanconi anemia subtyping[5].

Other names

FA complementation group L proteinE3 ubiquitin-protein ligase FANCLFA-LFANC-L