BCL2
小结
BCL2是癌基因，编码一种抗凋亡蛋白。该基因编码蛋白(B-cell lymphoma 2)是细胞凋亡的关键调节因子，是BCL2家族蛋白协调内在凋亡途径的一部分。BCL2被认为是抑制BAX介导的线粒体通透性的促存活因子，从而通过APAF1防止细胞色素C释放和下游Caspase 9活化。BCL2通常通过t（14；18）染色体易位与滤泡型B细胞淋巴瘤中的免疫球蛋白（Ig）重链基因座连接，导致了BCL2和下游的促存活信号的强烈表达，这一过程是淋巴瘤发生的关键步骤。在血液系统恶性肿瘤中，BCL常见的变异形式是易位和过度表达，但很少发生突变。
BCL2 (B-cell lymphoma 2), an anti-apoptotic protein, is a key regulator of cell apoptosis, and is part of the BCL2 family of proteins that orchestrate the intrinsic apoptotic pathway. BCL2 is considered a pro-survival factor that inhibits BAX-mediated mitochondrial permeability, thus preventing cytochrome c release and downstream caspase 9 activation through APAF1. BCL2 is commonly linked to the immunoglobulin (Ig) heavy chain locus in follicular B-cell lymphomas via the t(14;18) chromosomal translocation. This results in robust expression of BCL2 and downstream pro-survival signals, a key step in lymphomagenesis. Progression of follicular lymphoma to a more aggressive disease state is often associated with MYC translocation, suggesting a synergy between BCL2 and MYC in cancer progression . BCL2 is found to be translocated and overexpressed particularly in haematological malignancies, but is infrequently mutated.