【摘要】 跨膜蛋白43(TMEM43)是一种在物种间高度保守、定位在内核膜及内质网中且有一个大的亲水域的核膜蛋白。临床研究及流行病学调查发现,TMEM43基因的突变可导致心律失常性右心室心肌病(ARVC)和金刚砂-德雷福斯肌营养不良(EDMD)等疾病。目前,对此病的诊断及治疗尚存在一定的困难。此外,TMEM43与其他跨膜蛋白亦存在相互作用,但其功能和相关致病机制知之甚少。就TMEM43相关疾病及其与相关蛋白之间的作用进行综述,为后期研究TMEM43的功能及疾病治疗方面提供参考和帮助。更多还原

【Abstract】 Transmembrane protein 43 is a nuclear membrane protein that is highly conserved among species. It is located in the core membrane and endoplasmic reticulum and has a large hydrophilic domain. Epidemiological studies have found that mutations of TMEM43 can lead to arrhythmogenic right ventricular cardiomyopathy( ARVC) and Emery-Dreyfus muscular dystrophy( EDMD). At present,there are still some difficulties in the diagnosis and treatment of this disease. In addition,TMEM43 also interacts with other transmembrane proteins,but its function and related pathogenic mechanisms are poorly understood. In this review,the role of TMEM43 in related diseases and the interaction between TMEM43 and associated proteins were summarized.更多还原