Sheppard D N, Welsh M J
Human Genetics Unit, Department of Medicine, University of Edinburgh, Molecular Medicine Centre, Western General Hospital, Edinburgh, United Kingdom.
Physiol Rev. 1999 Jan;79(1 Suppl):S23-45. doi: 10.1152/physrev.1999.79.1.S23.
Structure and Function of the CFTR Chloride Channel. Physiol. Rev. 79, Suppl.: S23-S45, 1999. - The cystic fibrosis transmembrane conductance regulator (CFTR) is a unique member of the ABC transporter family that forms a novel Cl- channel. It is located predominantly in the apical membrane of epithelia where it mediates transepithelial salt and liquid movement. Dysfunction of CFTR causes the genetic disease cystic fibrosis. The CFTR is composed of five domains: two membrane-spanning domains (MSDs), two nucleotide-binding domains (NBDs), and a regulatory (R) domain. Here we review the structure and function of this unique channel, with a focus on how the various domains contribute to channel function. The MSDs form the channel pore, phosphorylation of the R domain determines channel activity, and ATP hydrolysis by the NBDs controls channel gating. Current knowledge of CFTR structure and function may help us understand better its mechanism of action, its role in electrolyte transport, its dysfunction in cystic fibrosis, and its relationship to other ABC transporters.
囊性纤维化跨膜传导调节因子(CFTR)氯离子通道的结构与功能。《生理学评论》79卷,增刊:S23 - S45,1999年。——囊性纤维化跨膜传导调节因子(CFTR)是ABC转运蛋白家族中的一个独特成员,它形成了一种新型氯离子通道。它主要位于上皮细胞的顶端膜,在那里介导跨上皮的盐和液体转运。CFTR功能障碍会导致遗传性疾病囊性纤维化。CFTR由五个结构域组成:两个跨膜结构域(MSD)、两个核苷酸结合结构域(NBD)和一个调节(R)结构域。在此,我们综述这个独特通道的结构与功能,重点关注各个结构域如何对通道功能发挥作用。跨膜结构域形成通道孔,R结构域的磷酸化决定通道活性,核苷酸结合结构域的ATP水解控制通道门控。目前关于CFTR结构和功能的知识可能有助于我们更好地理解其作用机制、在电解质转运中的作用、在囊性纤维化中的功能障碍以及它与其他ABC转运蛋白的关系。