菜单 基因医生

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]