菜单 基因医生

这个基因编码丝氨酸/苏氨酸蛋白激酶,在有丝分裂中起中心作用。编码的蛋白质部分通过磷酸化有丝分裂检查点复合体的成员和激活纺锤体检查点发挥作用。该蛋白也在抑制后期促进复合物/环小体的激活中发挥作用。这种蛋白质也可能在dna损伤反应中发挥作用。这种基因的突变与非整倍体和几种癌症有关。交替剪接导致多个转录变体。[由RefSeq提供,2013年7月]
This gene encodes a serine/threonine-protein kinase that play a central role in mitosis. The encoded protein functions in part by phosphorylating members of the mitotic checkpoint complex and activating the spindle checkpoint. This protein also plays a role in inhibiting the activation of the anaphase promoting complex/cyclosome. This protein may also function in the DNA damage response. Mutations in this gene have been associated with aneuploidy and several forms of cancer. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]

基因名:BUB1
别名:BUB1A,BUB1L,hBUB1
基因ID:699
Chromosome:
(GRCh37)
2 Start: 111395275 End: 111435684 Strand: 
信号通路:  
BUB1 基因突变与药物