The desmosomal plaque proteins of the plakophilin family.
The desmosomal plaque proteins of the plakophilin family.
复制标题
DOI：
10.1155/2010/101452
复制
发表时间：
2010
影响因子：
1.5
通讯作者：
Schmidt A
中科院分区：
文献类型：
--
作者：
Neuber S;Mühmer M;Wratten D;Koch PJ;Moll R;Schmidt A
亲血小板蛋白家族（PKP1_3）的三个相关蛋白已被确定为连接蛋白，对桥粒体细胞接触的形成和稳定至关重要。PKP表达失败可对桥粒粘连产生致命影响，导致组织和器官发育异常。因此，人类功能性pkp1的缺失会导致外胚层发育不良/皮肤脆性（EDSF）综合征，这是一种伴有严重表皮起泡和角化细胞分化异常的遗传性皮肤病。人类pkp2基因突变与导致致心律失常性右室心肌病（ARVC）的严重心脏异常有关。在过去的几年里，已经证明连接粘附不是PKPs的唯一功能。这些蛋白质与细胞信号传导、细胞骨架的组织以及特定细胞环境下蛋白质生物合成的控制有关。显然，PKPs不仅仅是细胞粘附蛋白。在本文中，我们将概述我们目前对嗜血小板蛋白在细胞中非常独特的作用的了解。
Three related proteins of the plakophilin family (PKP1_3) have been identified as junctional proteins that are essential for the formation and stabilization of desmosomal cell contacts. Failure of PKP expression can have fatal effects on desmosomal adhesion, leading to abnormal tissue and organ development. Thus, loss of functional PKP 1 in humans leads to ectodermal dysplasia/skin fragility (EDSF) syndrome, a genodermatosis with severe blistering of the epidermis as well as abnormal keratinocytes differentiation. Mutations in the human PKP 2 gene have been linked to severe heart abnormalities that lead to arrhythmogenic right ventricular cardiomyopathy (ARVC). In the past few years it has been shown that junctional adhesion is not the only function of PKPs. These proteins have been implicated in cell signaling, organization of the cytoskeleton, and control of protein biosynthesis under specific cellular circumstances. Clearly, PKPs are more than just cell adhesion proteins. In this paper we will give an overview of our current knowledge on the very distinct roles of plakophilins in the cell.