UBE3A

This gene encodes an E3 ubiquitin-protein ligase, part of the ubiquitin protein degradation system. This imprinted gene is maternally expressed in brain and biallelically expressed in other tissues. Maternally inherited deletion of this gene causes Angelman Syndrome, characterized by severe motor and intellectual retardation, ataxia, hypotonia, epilepsy, absence of speech, and characteristic facies. The protein also interacts with the E6 protein of human papillomavirus types 16 and 18, resulting in ubiquitination and proteolysis of tumor protein p53. Alternative splicing of this gene results in three transcript variants encoding three isoforms with different N-termini. Additional transcript variants have been described, but their full length nature has not been determined. [provided by RefSeq, Jul 2008]

本基因编码一种E3泛素-蛋白质连接酶，该酶为泛素蛋白降解系统的一部分。此印记基因在脑部母系表达，在其他组织中呈双等位基因表达。该基因的母系遗传缺失可导致安吉曼综合征，其特征为严重的运动和智力迟缓、共济失调、肌张力低下、癫痫、言语缺失及典型的面部特征。该蛋白还与人类乳头瘤病毒16型和18型的E6蛋白相互作用，导致肿瘤蛋白p53的泛素化和蛋白水解。该基因的剪接变异产生三种转录变体，分别编码具有不同N端的三种异构体。此外，尚有其他转录变体被描述，但其全长性质尚未确定。[由RefSeq提供，2008年7月]