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TRRAP基因突变因子与药物介绍

2022.8.04
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zhaoqisun

致力于为分析测试行业奉献终身

该基因编码磷酸肌醇3激酶相关激酶(pikk)家族的一个大的多域蛋白。编码蛋白是许多组蛋白乙酰转移酶(hat)复合物的共同组成部分,在转录和dna修复中起着重要作用。该基因的解除调控可能在多种类型的癌症中起作用,包括多形性胶质母细胞瘤。另外,已经观察到该基因编码多个亚型的剪接转录变体。[由RefSeq提供,2011年9月]
This gene encodes a large multidomain protein of the phosphoinositide 3-kinase-related kinases (PIKK) family. The encoded protein is a common component of many histone acetyltransferase (HAT) complexes and plays a role in transcription and DNA repair by recruiting HAT complexes to chromatin. Deregulation of this gene may play a role in several types of cancer including glioblastoma multiforme. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Sep 2011]

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