摘要
FXR基因家族是与脆性X综合征发病相关的一个基因家族。有3个家族成员。在进化上高度保守，氨基酸序列高度相似，有共同的功能结构域：两个KH结构域、RGG盒、NES和NLS。能够与RNA和多聚核糖体结合。通过NES和NLS携带其mRNA在细胞核和细胞质之间穿梭。不同的蛋白亚型其组织分布各异。该家族成员在大脑和神经发育过程中发挥重要作用，影响认知过程和智力发育。
The gene family associated with Fragile X Syndrome has three family members, They are highly conserved in evolution and similar in amino acid sequence. They contain common functional domains ： two KH domains and RGG box. NES and NLS can combine with RNA and polyribosome, shuttling between nucleus and plasma. Three proteins are expressed in brain and gonad. Different protein isoforms are distributed in different tissues. These family members play a key role in the development of brain and nervous system to influence cognitive process and intelligence development.
出处
《国际遗传学杂志》
CAS
2007年第2期127-129,109,共4页
International Journal of Genetics
基金
国家自然科学基金项目（30370795）
湖南省教委重点课题（01A017）
