其他名称: 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
实测条带: 103kD
信号通路: Nucleotide excision repair;
功能: 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.,
相关产品: RS0001,RS0002,YM3028,YM3029
细胞定位: Nucleus . Chromosome . Localizes to sites of DNA damage. .
其他名称: 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
实测条带: 103kD
信号通路: Nucleotide excision repair;
功能: 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.,
相关产品: RS0001,RS0002,YM3028,YM3029
细胞定位: Nucleus . Chromosome . Localizes to sites of DNA damage. .