胞吐是一种过程，通过这种过程，分泌囊泡与质膜融合，将物质输送到细胞表面或将货物释放到细胞外空间。胞吐囊泡复合物是一种进化保守的八聚体蛋白复合体，调节SNARE复合物装配的时空控制，以实现囊泡融合并将分泌囊泡系在质膜上。胞吐囊泡复合物参与多样化的细胞功能，包括蛋白质到质膜的转运、膜的延伸、细胞极性、神经突起生长、纤毛生成、细胞减数分裂、细胞迁移、自噬、宿主防御和肿瘤发生等。胞吐囊泡复合物的亚基对细胞生存至关重要；在多种亚型中，若干种胞吐囊泡复合物亚基的突变或变异已被证实与人类疾病相关，主要是神经发育障碍和纤毛病。这些疾病通常具有共性的特征，如发育迟缓、智力障碍和脑异常。本文综述了与疾病有关的胞吐囊泡复合物亚基的突变和变异，并讨论了胞吐囊泡复合物功能失常与其他疾病的相关性。© 2023。本文为美国政府作品，不受版权保护；可能适用外国版权保护。

Exocytosis is the process by which secretory vesicles fuse with the plasma membrane to deliver materials to the cell surface or to release cargoes to the extracellular space. The exocyst-an evolutionarily conserved octameric protein complex-mediates spatiotemporal control of SNARE complex assembly for vesicle fusion and tethering the secretory vesicles to the plasma membrane. The exocyst participates in diverse cellular functions, including protein trafficking to the plasma membrane, membrane extension, cell polarity, neurite outgrowth, ciliogenesis, cytokinesis, cell migration, autophagy, host defense, and tumorigenesis. Exocyst subunits are essential for cell viability; and mutations or variants in several exocyst subunits have been implicated in human diseases, mostly neurodevelopmental disorders and ciliopathies. These conditions often share common features such as developmental delay, intellectual disability, and brain abnormalities. In this review, we summarize the mutations and variants in exocyst subunits that have been linked to disease and discuss the implications of exocyst dysfunction in other disorders.© 2023. This is a U.S. Government work and not under copyright protection in the US; foreign copyright protection may apply.