菜单 基因医生

该基因编码dna螺旋酶蛋白recq亚家族的一个成员。编码的核蛋白在维持基因组稳定性中起着重要作用,在dna修复、复制、转录和端粒维持中发挥着重要作用。该蛋白在其中心区域包含一个n端3'到5'的外切酶域、一个atp依赖的螺旋酶域和rqc(recq螺旋酶保守区)域,以及一个c端hrdc(螺旋酶rnase d c端)域和核定位信号。该基因缺陷是werner综合征的病因,这是一种常染色体隐性遗传疾病,其特征是加速衰老和某些癌症的风险增加。[由RefSeq提供,2017年8月]
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]

基因名:WRN
别名:RECQ3,RECQL2,RECQL3
基因ID:7486
Chromosome:
(GRCh37)
8 Start: 30890778 End: 31031277 Strand: 
信号通路: 基因组不稳定  遗传相关 
WRN 基因突变与药物