脆性X智力障碍综合征是一种常见的人类遗传病,病人具有CGG重复的过度扩增而导致FMR1基因的表达受到影响。FMR1基因编码一套组分各异的蛋白(FMRP),该蛋白在神经元里含量最丰富,并在人类和鼠的其它组织中也有不同程度的表达。FMRP是一种胞质蛋白,含有两个保守的RNA结合区,因此该蛋白可能在核糖体的新陈代谢中发近作用,但目前其功能仍然未知。 Fragile X mental retardation syndrome is a common human genetic disease, the patient has CGG repeated over-amplification resulting in FMR1 gene expression is affected. The FMR1 gene encodes a diverse set of proteins (FMRP) that are abundant in neurons and are expressed to varying degrees in other tissues of humans and mice. FMRP is a cytoplasmic protein that contains two conserved RNA-binding domains, so the protein may play a role in the metabolism of ribosomes, but its function is still unknown.