ERCC5(ERCC excision repair 5, endonuclease),癌症关联基因,基因ID:2073,该基因编码一个单链特异性DNA内切酶,使紫外线损伤后DNA切除修复中的3'切口。该蛋白也可在其他细胞过程中发挥作用,包括RNA聚合酶Ⅱ转录和转录偶联DNA修复。该基因的突变导致着色性干皮病互补组G(xp-g),也被称为着色性干皮病VII(xp7),这是一种皮肤疾病,其特征是对紫外线过敏,并且在紫外线照射后对皮肤癌发展的敏感性增加。一些患者也会出现Cockayne综合征,其特征是严重的生长缺陷、智力迟钝和恶病质。该基因与相邻的上游bivm(碱性,免疫球蛋白样可变基序)基因之间存在直接转录。This gene encodes a single-strand specific DNA endonuclease that makes the 3' incision in DNA excision repair following UV-induced damage. The protein may also function in other cellular processes, including RNA polymerase II transcription, and transcription-coupled DNA repair. Mutations in this gene cause xeroderma pigmentosum complementation group G (XP-G), which is also referred to as xeroderma pigmentosum VII (XP7), a skin disorder characterized by hypersensitivity to UV light and increased susceptibility for skin cancer development following UV exposure. Some patients also develop Cockayne syndrome, which is characterized by seve。