Fanconi anemia core complex-associated protein 100 (FAAP100)

Fanconi anemia core complex-associated protein 100 (FAAP100) is a critical structural and functional component of the **Fanconi anemia (FA) core complex**, a large multiprotein E3 ubiquitin ligase central to the DNA interstrand crosslink repair pathway[1][2][4]. FAAP100 forms a subcomplex with FANCB and FANCL at the heart of the FA core complex, stabilizing and scaffolding the assembly of other subunits required for the monoubiquitination of FANCD2 and FANCI, a pivotal molecular step for DNA repair and maintaining genome stability[1][2][3][4]. Loss of FAAP100 disrupts the stability of the entire complex, impairs the FA DNA repair pathway, causes hallmark features of FA including genomic instability, hypersensitivity to DNA crosslinking agents, bone marrow failure, developmental abnormalities, and increased cancer predisposition[1][3][5]. Pathogenic variants in FAAP100 can underlie rare forms of inherited Fanconi anemia[5]. Currently, FAAP100 is not a direct drug target, but its function and integrity are central to FA pathway biomarker assessments and future therapeutic research.

Other names

Fanconi anemia core complex-associated protein 100FAAP100C17orf70FLJ22175Fanconi anemia-associated protein of 100 kDaFANCX