The fragile X-related (FXR) family proteins FMRP, FXR1, and FXR2 are RNA binding proteins that play a critical role in RNA metabolism, neuronal plasticity, and muscle development. These proteins share significant homology in their protein domains, which are functionally and structurally similar to each other. FXR family members are known to play an essential role in causing fragile X mental retardation syndrome (FXS), the most common genetic form of autism spectrum disorder. Recent advances in our understanding of this family of proteins have occurred in tandem with discoveries of great importance to neurological disorders and cancer biology via the identification of their novel RNA and protein targets. Herein, we review the FXR family of proteins as they pertain to FXS, other mental illnesses, and cancer. We emphasize recent findings and analyses that suggest contrasting functions of this protein family in FXS and tumorigenesis based on their expression patterns in human tissues. Finally, we discuss current gaps in our knowledge regarding the FXR protein family and their role in FXS and cancer and suggest future studies to facilitate bench to bedside translation of the findings.

脆弱的 X 相关 (FXR) 家族蛋白 FMRP、FXR1 和 FXR2 是 RNA 结合蛋白，在 RNA 代谢、神经元可塑性和肌肉发育中起着关键作用。这些蛋白质在它们的蛋白质结构域中具有显着的同源性，它们在功能和结构上彼此相似。众所周知，FXR 家族成员在导致脆性 X 智力低下综合征 (FXS) 方面发挥着重要作用，这是自闭症谱系障碍最常见的遗传形式。在我们这个蛋白家族的了解最新进展已发生亦随非常重要的发现神经系统疾病和癌症生物学通过鉴定他们的新型 RNA 和蛋白质靶标。在此，我们回顾了 FXR 蛋白质家族，因为它们与 FXS、其他精神疾病和癌症有关。我们强调了最近的发现和分析，这些发现和分析表明，基于它们在人体组织中的表达模式，该蛋白质家族在 FXS 和肿瘤发生中的功能对比。最后，我们讨论了我们目前在 FXR 蛋白家族及其在 FXS 和癌症中的作用方面的知识差距，并建议未来的研究以促进研究结果的临床转化。