基因名称：BCL2L1 （BCL2 like 1）
别名： BCLX,BCL2L,Bcl-X,PPP1R52,BCL-XL/S
基因ID：598
Chromosome(GRCh37) ：20 Start: 30252261 End: 30311752 Strand:
信号通路： 细胞增殖
炎症相关
凋亡抑制
靶向药：
化疗药：
简介：该基因编码的蛋白属于bcl-2蛋白家族。bcl-2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。由该基因编码的蛋白质位于线粒体外膜，已被证明可以调节线粒体外膜通道（vdac）的开放。vdac调节线粒体膜电位，从而控制线粒体产生活性氧和释放细胞色素c，两者都是细胞凋亡的有效诱导因子。选择性剪接导致编码两种不同亚型的多个转录变体。较长的亚型作为凋亡抑制因子，较短的亚型作为凋亡激活因子。[由RefSeq提供，2015年12月]The protein encoded by this gene belongs to the BCL-2 protein family. BCL-2 family members form hetero- or homodimers and act as anti- or pro-apoptotic regulators that are involved in a wide variety of cellular activities. The proteins encoded by this gene are located at the outer mitochondrial membrane, and have been shown to regulate outer mitochondrial membrane channel (VDAC) opening. VDAC regulates mitochondrial membrane potential, and thus controls the production of reactive oxygen species and release of cytochrome C by mitochondria, both of which are the potent inducers of cell apoptosis. Alternative splicing results in multiple transcript variants encoding two different isoforms. The longer isoform acts as an apoptotic inhibitor and the shorter isoform acts as an apoptotic activator. [provided by RefSeq, Dec 2015]
BCL2L1突变与药物：
