The programmed cell death 10 (PDCD10) gene was originally identified as an apoptosis-related gene, although it is now usually known as CCM3, as the third causative gene of cerebral cavernous malformation (CCM). CCM is a neurovascular disease that is characterized by vascular malformations and is associated with headaches, seizures, focal neurological deficits, and cerebral hemorrhage. The PDCD10/CCM3 protein has multiple subcellular localizations and interacts with several multi-protein complexes and signaling pathways. Thus PDCD10/CCM3 governs many cellular functions, which include cell-to-cell junctions and cytoskeleton organization, cell proliferation and apoptosis, and exocytosis and angiogenesis. Given its central role in the maintenance of homeostasis of the cell, dysregulation of PDCD10/CCM3 can result in a wide range of altered cell functions. This can lead to severe diseases, including CCM, cognitive disability, and several types of cancers. Here, we review the multifaceted roles of PDCD10/CCM3 in physiology and pathology, with a focus on its functions beyond CCM.

程序性细胞死亡 10 ( PDCD10 ) 基因最初被确定为与细胞凋亡相关的基因，尽管它现在通常称为CCM3，作为脑海绵状血管畸形 (CCM) 的第三个致病基因。CCM是一种以血管畸形为特征的神经血管疾病，与头痛、癫痫、局灶性神经功能缺损和脑出血有关。PDCD10/CCM3 蛋白具有多种亚细胞定位，并与多种多蛋白复合物和信号通路相互作用。因此PDCD10/CCM3控制许多细胞功能，包括细胞间连接和细胞骨架组织、细胞增殖和凋亡，以及胞吐作用和血管生成。鉴于其在维持细胞稳态中的核心作用，PDCD10/CCM3 的失调可导致广泛的细胞功能改变。这可能导致严重的疾病，包括 CCM、认知障碍和几种类型的癌症。在这里，我们回顾了PDCD10/CCM3在生理学和病理学中的多方面作用，重点是它在 CCM 之外的功能。