XPF/ERCC4 is suggested to play a role in the repair of DNA double-strand breaks (DSB), homologous recombination, and gene conversion via single-strand annealing (SSA). XPF/ERCC4 is an endonuclease that incises 5-prime DNA. Defects in XPF/ERCC4 cause xeroderma pigmentosum VI (XP6) an autosomal recessive disease characterized by hypersensitivity to sunlight and a predisposition to skin cancer as well as neurological abnormalities. Defects in XPF/ERCC4 are also responsible for XFE progeroid syndrome, a syndrome characterized by dwarfism, cachexia, and microcephaly.
DNA excision repair protein ERCC-4•
DNA repair protein complementing XP-F cells•
excision repair cross-complementation group 4•
excision repair cross-complementing rodent repair deficiency, complementation group 4•
excision-repair, complementing defective, in Chinese hamster•
xeroderma pigmentosum group F-complementing protein•
xeroderma pigmentosum, complementation group F•