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OBSL1基因编码细胞骨架适配蛋白，其在连接细胞膜结合胞核蛋白中发挥细胞质支持网络作用，与3M综合征等疾病密切相关，目前的研究多与此有关，而在其他疾病的研究中少见。本文旨在对OBSL1基因的结构、功能、与3M综合征及肿瘤相关的研究现状进行综述。“,”OBSL1 gene encoding cytoskeleton adapter protein, It plays the role of cytoplasmic support network in combination with the nucleus in the cell membrane protein connection, it is closely related with 3M- syndrome, now the most of researches of about it, but rare in other diseases. This paper summarized to OBSL1 gene structure, function, and 3 M - syndrome and tumor related research status.