该基因编码的蛋白属于bcl2蛋白家族。BCL2家族成员形成异二聚体或同二聚体,并作为抗或促凋亡调节因子参与多种细胞活动。该蛋白与bcl2形成异二聚体,并作为凋亡激活剂发挥作用。据报道,该蛋白与线粒体电压依赖性阴离子通道(vdac)相互作用并增加其开放性,导致膜电位下降和细胞色素c的释放。该基因的表达受抑癌基因p53的调控,并参与p53介导的细胞凋亡。多个选择性剪接的转录变体,编码不同的亚型,已经报道了这个基因。[由RefSeq提供,2008年7月]
The protein encoded by this gene belongs to the BCL2 protein family. BCL2 family members form hetero- or homodimers and act as anti- or pro-apoptotic regulators that are involved in a wide variety of cellular activities. This protein forms a heterodimer with BCL2, and functions as an apoptotic activator. This protein is reported to interact with, and increase the opening of, the mitochondrial voltage-dependent anion channel (VDAC), which leads to the loss in membrane potential and the release of cytochrome c. The expression of this gene is regulated by the tumor suppressor P53 and has been shown to be involved in P53-mediated apoptosis. Multiple alternatively spliced transcript variants, which encode different isoforms, have been reported for this gene. [provided by RefSeq, Jul 2008]

基因名:BAX
别名:BCL2L4
基因ID:581
Chromosome:
(GRCh37)
19 Start: 49458117 End: 49465055 Strand: 
信号通路:  
BAX 基因突变与药物

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