ERCC4, ERCC11, XPF, DNA repair endonuclease XPF, DNA excision repair protein ERCC-4, DNA repair protein complementing XP-F cells, Xeroderma pigmentosum group F-complementing protein
The protein encoded by this gene forms a complex with ERCC1 and is involved in the 5 incision made during nucleotide excision repair. This complex is a structure specific DNA repair endonuclease that interacts with EME1. Defects in this gene are a cause of xeroderma pigmentosum complementation group F (XP-F), or xeroderma pigmentosum VI (XP6).[provided by RefSeq, Mar 2009],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.,
