ERCC4 Polyclonal Antibody

cofactor:Magnesium.,disease:Defects in ERCC4 are a cause of XFE progeroid syndrome [MIM:610965]. This syndrome is illustrated by one patient who presented with dwarfism, cachexia and microcephaly.,disease:Defects in ERCC4 are the cause of xeroderma pigmentosum complementation group F (XP-F) [MIM:278760]; also known as xeroderma pigmentosum VI (XP6). XP-F is an autosomal recessive disease characterized by hypersensitivity of the skin to sunlight followed by high incidence of skin cancer and frequent neurologic abnormalities.,function:Structure-specific DNA repair endonuclease responsible for the 5-prime incision during DNA repair. Involved in homologous recombination that assists in removing interstrand cross-link.,similarity:Belongs to the XPF family.,subunit:Heterodimer composed of ERCC1 and XPF/ERCC4. Interacts with EME1.,