摘要泛素连接酶 E3 A(Ube3 a)基因,也称人类腺病毒 E6相关蛋白(E6-AP)基因,其编码产物 Ube3 a 蛋白是一种 E3泛素连接酶,对于蛋白质质量控制、维持细胞的正常生理功能至关重要.Ube3 a 异常表达与多种疾病发生相关.Ube3 a 的神经元特异性损失导致安格曼综合征(Angelman syndrome,AS),另外,近期实验证明 Ube3 a 与细胞增殖调控障碍有间接关系,可被当作潜在的肿瘤治疗靶点.本文就 Ube3 a 与神经障碍及细胞增殖调控障碍分子机制的关系做一综述.

abstractsUbiquitin-protein ligase E 3 A(Ube3 a)gene, also known as human adenovirus E 6-associated protein(E6-AP)gene, encodes Ube 3 a protein that serves as an E 3 ubiquitin ligase.Protein quality control, or proteostasis, has an important regulatory role in cellular function.Ube3 a abnormal ex-pression is associated with a variety of diseases.A lack of functional Ube 3 a causes Angelman syndrome (AS).In addition, Ube3 a has also been shown to have an indirect relationship with cell proliferation control disorders and can be used as a potential target for tumor therapy.This review summarizes the rela-tionship between Ube3 a and neurological disorders and molecular mechanism underlying cell proliferation control disorder.