FUS
小结
FUS编码异质核核糖核蛋白（hnRNP）复合物的多功能蛋白质组分。 hnRNP复合物参与前体RNA剪接和完全加工的mRNA向细胞质的输出。该蛋白质属于RNA结合蛋白的FET家族，其涉及细胞过程，包括基因表达的调节，基因组完整性的维持和mRNA /微小RNA加工，可能在维持基因组完整性方面发挥作用。与FUS相关的疾病包括遗传性特发性震颤4型和肌萎缩侧索硬化伴或不伴额颞痴呆6型。该基因常与EWSR1发生融合。
FUS encodes a multifunctional protein component of the heterogeneous nuclear ribonucleoprotein (hnRNP) complex. The hnRNP complex is involved in pre-mRNA splicing and the export of fully processed mRNA to the cytoplasm. This protein belongs to the FET family of RNA-binding proteins which have been implicated in cellular processes that include regulation of gene expression, maintenance of genomic integrity and mRNA/microRNA processing. Alternative splicing results in multiple transcript variants. Defects in this gene result in amyotrophic lateral sclerosis type 6.