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 severe growth defects, mental retardation, and cachexia. Read-through transcription exists between this gene and the neighboring upstream BIVM (basic, immunoglobulin-like variable motif containing) gene.

基因名:ERCC5
别名:COFS3,ERCC5-201,ERCM2,UVDR,XPG,XPGC
基因ID:2073
Chromosome:
(GRCh37)
13 Start: 103497194 End: 103528345 Strand: 1
信号通路: