菜单 基因医生

bloom综合征基因产物与含有dna解旋酶的desh盒recq亚群有关,具有dna刺激的atp酶和atp依赖的dna解旋酶活性。引起布鲁姆综合征的突变会删除或改变螺旋酶基序,并可能使3'-5'螺旋酶活性丧失。正常蛋白可能起到抑制不适当重组的作用。[由RefSeq提供,2008年7月]
The Bloom syndrome gene product is related to the RecQ subset of DExH box-containing DNA helicases and has both DNA-stimulated ATPase and ATP-dependent DNA helicase activities. Mutations causing Bloom syndrome delete or alter helicase motifs and may disable the 3'-5' helicase activity. The normal protein may act to suppress inappropriate recombination. [provided by RefSeq, Jul 2008]

基因名:BLM
别名:BS,RECQ2,RECQL2,RECQL3,MGRISCE1
基因ID:641
Chromosome:
(GRCh37)
15 Start: 91260579 End: 91358686 Strand: 
信号通路: 细胞周期  基因组不稳定  遗传相关 
BLM 基因突变与药物