ERCC8
收藏rgd.mcw.edu2025-03-26 收录
下载链接：
https://rgd.mcw.edu/rgdweb/report/gene/main.html?id=1601889
下载链接
链接失效反馈官方服务：
资源简介：
This gene encodes a WD repeat protein, which interacts with Cockayne syndrome type B (CSB) protein and with p44 protein, a subunit of the RNA polymerase II transcription factor IIH. Mutations in this gene have been identified in patients with hereditary disease Cockayne syndrome (CS). CS cells are abnormally sensitive to ultraviolet radiation and are defective in the repair of transcriptionally active genes. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2014]
本基因编码一种WD结构域重复蛋白，该蛋白与库克雷因综合征B型（CSB）蛋白及RNA聚合酶II转录因子IIH的亚基p44蛋白相互作用。此基因突变已在库克雷因综合征（CS）这一遗传性疾病患者中发现。库克雷因综合征细胞对紫外线辐射异常敏感，且在转录活性基因的修复方面存在缺陷。针对此基因，已发现多个转录变体，它们编码不同的同源异构体。[由RefSeq提供，2014年3月]
提供机构：
Rat Genome Database
