Rab家族与遗传性疾病的研究进展  

Progress in Rab family and genetic disorders

作　　者：崔航[1,2] 李玉花[1] 刘靖华[2] 

机构地区：[1]东北林业大学生命科学学院发育生物学实验室,哈尔滨150040 [2]南方医科大学基础医学院教育部重大疾病的转录组与蛋白质组学重点实验室,广州510515

出　　处：《国际遗传学杂志》2013年第2期69-73,79,共6页International Journal of Genetics

基　　金：国家自然科学基金项目（81272149;81072425）

摘　　要：Rab家族在人类基因组中含有60多个成员，参与囊泡运输的调节。越来越多的证据表明，如果Rab蛋白发生突变或者表达水平发生异常，会导致囊泡运输的障碍，使被运输的物质不能到达目的区域，最终可能出现生理失调乃至疾病的发生，如遗传性疾病、老年痴呆症、癌症等。该文就Rab异常导致的遗传性疾病进行综述。The Rab Family contains over 60 genes in the human genome and contributes to regu- lation of transporting vesicles. It has become increasingly clear that altered expression levels and mutations of Rab would lead to disruption of transporting vesicles, the cargo could not and then be transported in tar- get compartments. Finally, It might be associated with physiological disorder and diseases such as genetic disorders, Alzheimer＇ s disease and cancer. We discusses the relationship between deviant of Rab and ge- netic disorders in this review

关 键 词：RAB蛋白 囊泡运输 遗传性疾病 

分 类 号：R596[医药卫生—内科学]