FAAP20 is a key component of the FA core complex, and regulated proteolysis of FAAP20 mediated by the ubiquitin E3 ligase SCFFBW7 is critical for maintaining the integrity of the FA complex and FA pathway signaling.
The novel mutation is located in exon 35 in the FAAP20-binding domain which plays a crucial role in the <i>FANCA</i>-FAAP20 interaction and is required for integrity of the fanconi anemia pathway.