該基因編碼磷酸肌醇3激酶相關激酶(pikk)家族的一個大的多域蛋白。編碼蛋白是許多組蛋白乙酰轉移酶(hat)復合物的共同組成部分,在轉錄和dna修復中起著重要作用。該基因的解除調控可能在多種類型的癌癥中起作用,包括多形性膠質母細胞瘤。另外,已經觀察到該基因編碼多個亞型的剪接轉錄變體。
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.