摘要
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 a member of the scaffolding protein which is especially expressed in the Schwann cells and lens fiber cells. Periaxin is involved in extension,stabilization and regeneration of the myelin unit during ensheathing the axon for maturity of myelination. Deletion or mutation of PRX gene leads to demyelinating Charcot-Marie-Tooth disease（ CMT） subtype 4F. In this review,we described the structure and function of the periaxin,and the relation between CMT4 F with the gene mutation of PRX.
出处
《中国生物化学与分子生物学报》
CAS
CSCD
北大核心
2015年第2期113-120,共8页
Chinese Journal of Biochemistry and Molecular Biology
基金
国家自然科学基金(No.31170748)
生物大分子国家重点实验室课题资助(2010年)~~
关键词
施旺氏细胞
髓鞘
轴周蛋白
脱髓鞘型腓骨肌萎缩症
chwann cell
myelin sheath
periaxin
demyelinating Charcot-Marie-Tooth disease
