菜单 基因医生

这个基因编码bcl-2蛋白家族的一个成员。这个家族的蛋白质形成异二聚体或同二聚体，并作为抗和促凋亡调节因子，参与多种细胞活动，如胚胎发育、体内平衡和肿瘤发生。该基因编码的蛋白能减少线粒体前凋亡细胞色素c的释放，阻断caspase的激活。该基因是nf-kappa b对炎症介质的直接转录靶点，受粒细胞巨噬细胞集落刺激因子（gm-csf）、cd40、佛波醇酯、炎性细胞因子tnf和il-1等多种细胞外信号上调。这表明细胞保护功能对淋巴细胞活化和细胞存活至关重要。另外，已经发现该基因编码不同亚型的剪接转录变体。[由RefSeq提供，2008年7月]
This gene encodes a member of the BCL-2 protein family. The proteins of this family form hetero- or homodimers and act as anti- and pro-apoptotic regulators that are involved in a wide variety of cellular activities such as embryonic development, homeostasis and tumorigenesis. The protein encoded by this gene is able to reduce the release of pro-apoptotic cytochrome c from mitochondria and block caspase activation. This gene is a direct transcription target of NF-kappa B in response to inflammatory mediators, and is up-regulated by different extracellular signals, such as granulocyte-macrophage colony-stimulating factor (GM-CSF), CD40, phorbol ester and inflammatory cytokine TNF and IL-1, which suggests a cytoprotective function that is essential for lymphocyte activation as well as cell survival. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]