Department of Cellular and Molecular Biology, University of Texas Health Science Center at Tyler, Tyler, Texas, USA.
Am J Physiol Lung Cell Mol Physiol. 2012 Dec 15;303(12):L1013-26. doi: 10.1152/ajplung.00206.2012. Epub 2012 Sep 14.
The fourth subunit of the epithelial sodium channel, termed delta subunit (δ ENaC), was cloned in human and monkey. Increasing evidence shows that this unique subunit and its splice variants exhibit biophysical and pharmacological properties that are divergent from those of α ENaC channels. The widespread distribution of epithelial sodium channels in both epithelial and nonepithelial tissues implies a range of physiological functions. The altered expression of SCNN1D is associated with numerous pathological conditions. Genetic studies link SCNN1D deficiency with rare genetic diseases with developmental and functional disorders in the brain, heart, and respiratory systems. Here, we review the progress of research on δ ENaC in genomics, biophysics, proteomics, physiology, pharmacology, and clinical medicine.
上皮钠离子通道的第四个亚基，称为δ亚基（δ ENaC），在人类和猴子中被克隆。越来越多的证据表明，这个独特的亚基及其剪接变体表现出与α ENaC 通道不同的生物物理和药理学特性。上皮钠离子通道在上皮组织和非上皮组织中的广泛分布暗示了其具有多种生理功能。SCNN1D 的表达改变与许多病理状况有关。遗传研究将 SCNN1D 缺乏与罕见的遗传疾病联系起来，这些疾病涉及大脑、心脏和呼吸系统的发育和功能障碍。在这里，我们回顾了 δ ENaC 在基因组学、生物物理学、蛋白质组学、生理学、药理学和临床医学方面的研究进展。
