ERCC4是抑癌基因,编码蛋白是一种DNA内切核酸酶,参与DNA核苷酸切除修复。ERCC4也称为XPF,与ERCC1结合形成复合体表现出活性。ERCC4-ERCC1复合物需要在双链和单链DNA之间的连接处切割,并且在核苷酸切除修复,DNA双链断裂修复和DNA链间交联修复中具有重要功能。癌症中出现ERCC4的体细胞突变很罕见,但是,ERCC4功能缺失性的胚系突变与范可尼贫血,Cockayne综合征和色素性干皮病相关,更容易引起癌症。
ERCC4 (also known as XPF) is a DNA endonuclease protein that is active when in a complex in ERCC1. The ERCC4-ERCC1 complex is required to cut at the junction between double stranded and single stranded DNA and has important functions in nucleotide excision repair, DNA double-strand break repair, and DNA interstrand crosslinks repair. Hereditary mutations in ERCC4 have been identified in skin-photosensitive and DNA repair deficient disorders including xeroderma pigmentosum, Cocakyane synrome, XFE progeroid syndrome and Fanconi Anemia. Somatic ERCC4 mutations are rare in cancer, however, loss-of-function germline ERCC4 mutations can cause a predisposition for cancer.
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