WRN

This gene encodes a member of the RecQ subfamily of DNA helicase proteins. The encoded nuclear protein is important in the maintenance of genome stability and plays a role in DNA repair, replication, transcription and telomere maintenance. This protein contains a N-terminal 3' to 5' exonuclease domain, an ATP-dependent helicase domain and RQC (RecQ helicase conserved region) domain in its central region, and a C-terminal HRDC (helicase RNase D C-terminal) domain and nuclear localization signal. Defects in this gene are the cause of Werner syndrome, an autosomal recessive disorder characterized by accelerated aging and an elevated risk for certain cancers. [provided by RefSeq, Aug 2017]

本基因编码DNA解旋酶蛋白的RecQ亚家族成员。编码的核蛋白在维持基因组稳定性方面发挥着重要作用，并在DNA修复、复制、转录及端粒维护中扮演关键角色。该蛋白在其中央区域含有N端3'至5'外切酶结构域、ATP依赖性解旋酶结构域以及RQC（RecQ解旋酶保守区域）结构域，同时在C端具有HRDC（解旋酶RNA酶D C端）结构域和核定位信号。该基因的缺陷是魏尔纳综合症的原因，这是一种常染色体隐性遗传疾病，以加速衰老和某些癌症风险增加为特征。[由RefSeq提供，2017年8月]