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POM121基因突变因子与药物介绍

2022.8.02

该基因编码一种跨膜蛋白,该蛋白定位于核内膜,形成核孔复合体的核心成分,介导核间的运输编码的蛋白质可能将这种复合物锚定在核膜上。在第5、7、15和22号染色体上有多个相关基因和假基因。另外,还观察到编码不同亚型的剪接转录变体[由RefSeq提供,2013年7月]
This gene encodes a transmembrane protein that localizes to the inner nuclear membrane and forms a core component of the nuclear pore complex, which mediates transport to and from the nucleus. The encoded protein may anchor this complex to the nuclear envelope. There are multiple related genes and pseudogenes for this gene on chromosomes 5, 7, 15, and 22. Alternatively spliced transcript variants encoding different isoforms have been observed. [provided by RefSeq, Jul 2013]

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