FMR1 常染色体同源物 1 (FXR1) 是一种 RNA 结合蛋白，属于脆性 X 相关蛋白 (FXR) 家族。 FXR1 对于发育至关重要，因为它的功能丧失在人类中是不耐受的，并会导致小鼠的新生儿死亡。尽管FXR1广泛表达，包括大脑，但对FXR1的功能研究主要在癌细胞中进行。有限的研究证明了 FXR1 在大脑中的重要性。在这篇综述中，我们将重点关注 FXR1 在大脑发育和大脑疾病发病机制中的作用。我们将在神经生物学的背景下总结 FXR1 的当前知识，包括结构特征、亚型多样性和命名、表达模式、翻译后修饰、调节机制和分子功能。总体而言，FXR1 成为大脑中 RNA 代谢的重要调节因子，对神经发育和精神疾病具有重要影响。© 2024。作者获得 Springer-Verlag GmbH（德国 Springer Nature 旗下公司）的独家许可。

FMR1 autosomal homolog 1 (FXR1) is an RNA-binding protein that belongs to the Fragile X-related protein (FXR) family. FXR1 is critical for development, as its loss of function is intolerant in humans and results in neonatal death in mice. Although FXR1 is expressed widely including the brain, functional studies on FXR1 have been mostly performed in cancer cells. Limited studies have demonstrated the importance of FXR1 in the brain. In this review, we will focus on the roles of FXR1 in brain development and pathogenesis of brain disorders. We will summarize the current knowledge in FXR1 in the context of neural biology, including structural features, isoform diversity and nomenclature, expression patterns, post-translational modifications, regulatory mechanisms, and molecular functions. Overall, FXR1 emerges as an important regulator of RNA metabolism in the brain, with strong implications in neurodevelopmental and psychiatric disorders.© 2024. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.