Human Survival Motor Neuron (SMN) genes code for SMN, an essential multifunctional protein. Complete loss of SMN is embryonic lethal, while low levels of SMN lead to spinal muscular atrophy (SMA), a major genetic disease of children and infants. Reduced levels of SMN are associated with the abnormal development of heart, lung, muscle, gastro-intestinal system and testis. The SMN loci have been shown to generate a vast repertoire of transcripts, including linear, back- and trans-spliced RNAs as well as antisense long noncoding RNAs. However, functions of the majority of these transcripts remain unknown. Here we review the nature of RNAs generated from the SMN loci and discuss their potential functions in cellular metabolism.

中文翻译：

---

对脊髓性肌萎缩症基因产生的转录本的调查。

人类运动神经元生存 (SMN) 基因编码 SMN，一种重要的多功能蛋白。SMN的完全丧失会导致胚胎死亡，而低水平的SMN会导致脊髓性肌萎缩症（SMA），这是儿童和婴儿的一种主要遗传病。SMN水平降低与心脏、肺、肌肉、胃肠系统和睾丸的异常发育有关。SMN 基因座已被证明可生成大量转录本，包括线性、反向剪接和反式剪接 RNA 以及反义长非编码 RNA。然而，大多数这些转录本的功能仍然未知。在这里，我们回顾了 SMN 位点产生的 RNA 的性质，并讨论了它们在细胞代谢中的潜在功能。