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ERCC4 is a protein designated as DNA repair endonuclease XPF that in humans is encoded by the ''ERCC4'' gene. Together with ERCC1, ERCC4 forms the ERCC1-XPF enzyme complex that participates in DNA repair and DNA recombination.〔(【引用サイトリンク】 url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=2072 )〕 The nuclease enzyme ERCC1-XPF cuts specific structures of DNA. Many aspects of these two gene products are described together here because they are partners during DNA repair. The ERCC1-XPF nuclease is an essential activity in the pathway of DNA nucleotide excision repair (NER). The ERCC1-XPF nuclease also functions in pathways to repair double-strand breaks in DNA, and in the repair of “crosslink” damage that harmfully links the two DNA strands. Cells with disabling mutations in ''ERCC4'' are more sensitive than normal to particular DNA damaging agents, including ultraviolet radiation and to chemicals that cause crosslinking between DNA strands. Genetically engineered mice with disabling mutations in ''ERCC4'' also have defects in DNA repair, accompanied by metabolic stress-induced changes in physiology that result in premature aging. Complete deletion of ''ERCC4'' is incompatible with viability of mice, and no human individuals have been found with complete (homozygous) deletion of ''ERCC4''. Rare individuals in the human population harbor inherited mutations that impair the function of ''ERCC4''. When the normal genes are absent, these mutations can lead to human syndromes, including xeroderma pigmentosum, Cockayne syndrome and Fanconi anemia. ''ERCC1'' and ''ERCC4'' are the human gene names and ''Ercc1'' and ''Ercc4'' are the analogous mammalian gene names. Similar genes with similar functions are found in all eukaryotic organisms. == Gene == The human ''ERCC4'' gene can correct the DNA repair defect in specific ultraviolet light (UV)-sensitive mutant cell lines derived from Chinese hamster ovary cells. Multiple independent complementation groups of Chinese hamster ovary (CHO) cells have been isolated, and this gene restored UV resistance to cells of complementation group 4. Reflecting this cross-species genetic complementation method, the gene was called “Excision repair cross-complementing 4” The human ''ERCC4'' gene encodes the XPF protein of 916 amino acids with a molecular mass of about 104,000 daltons. Genes similar to ''ERCC4'' with equivalent functions (orthologs) are found in other eukaryotic genomes. Some of the most studied gene orthologs include ''RAD1'' in the budding yeast ''Saccharomyces cerevisiae'', and ''rad16+'' in the fission yeast ''Schizosaccharomyces pombe''. 抄文引用元・出典: フリー百科事典『 ウィキペディア（Wikipedia）』 ■ウィキペディアで「ERCC4」の詳細全文を読む スポンサード リンク
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