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EML4基因突变与药物因子介绍

2022.7.26
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zhaoqisun

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该基因是棘皮微管相关蛋白样家族的成员。编码的wd重复蛋白可能参与微管的形成。部分基因与间变性淋巴瘤受体酪氨酸激酶基因(产生eml4-alk融合转录本)的异常融合是与非小细胞肺癌相关的主要突变之一。这个基因的选择性剪接导致两个转录变体。[由RefSeq提供,2015年1月]
This gene is a member of the echinoderm microtubule associated protein-like family. The encoded WD-repeat protein may be involved in microtubule formation. Abnormal fusion of parts of this gene with portions of the anaplastic lymphoma receptor tyrosine kinase gene, which generates EML4-ALK fusion transcripts, is one of the primary mutations associated with non-small cell lung cancer. Alternative splicing of this gene results in two transcript variants. [provided by RefSeq, Jan 2015]

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