Periaxin是施旺氏细胞(Schwann cells)与晶状体纤维细胞中特异表达的支架蛋白之一.在施旺氏细胞包裹轴突形成髓鞘过程中,periaxin蛋白参与髓鞘的延展、修复及再生等.PRX基因的缺失或突变将引起脱髓鞘型腓骨肌萎缩症(CMT)4F亚型的发生.本文就periaxin蛋白分子结构特点、生理学功能、以及其基因突变与脱髓鞘型腓骨肌萎缩症CMT4F亚型的发生等进行综述. Periaxin is one of the scaffold proteins specifically expressed in Schwann cells and lens fibroblasts.When Schwann cells wrap axons to form myelin, periaxin proteins are involved in the extension, repair and regeneration of myelin. PRX gene deletion or mutation will cause demyelinating type of Charcot-Marie-Tooth Disease (CMT) 4F subtypes.In this paper, periaxin protein molecular structure, physiological function, as well as its gene mutation and demyelinating perichondrial amblyopia CMT4F The occurrence of subtypes and so on are reviewed.