Periaxin与腓骨肌萎缩症4 F亚型

摘要

Periaxin是施万细胞特异表达的一种蛋白，在维持髓鞘稳定性方面起重要作用，该基因突变将导致脱髓鞘型常染色体隐性遗传的腓骨肌萎缩症4F 亚型发生。从分子遗传学角度探讨腓骨肌萎缩症4F亚型发病的机制已成为目前研究的热点。从 periaxin的分布、结构与功能开展研究，寻找与其相互作用的蛋白质并揭示其互作的生物学意义，从蛋白质水平上研究腓骨肌萎缩症的发病机制具有重要意义。%Periaxin is expressed by myelinating Schwann cells ,which plays an essential role in stabiliza-tion of the myeline sheath.Periaxin mutations cause autosomal recessive,demyelination neuropathy,Charcot-Marie-Tooth 4F(CMT4F) subtype.Molecular genetics mechanism of CMT4F subtype has been one of the hot spots in the research field.The study of periaxin distribution,structures and functions,finding the interacting proteins with periaxin will reveal its biological function ,and lay the foundation for the research of CMT patho-genesis on the protein level.