Departments of Medicine and Physiology, Johns Hopkins University School of Medicine, Baltimore, MD, United States.
Mol Aspects Med. 2013 Apr-Jun;34(2-3):236-51. doi: 10.1016/j.mam.2012.05.001.
This brief review of the human Na/H exchanger gene family introduces a new classification with three subgroups to the SLC9 gene family. Progress in the structure and function of this gene family is reviewed with structure based on homology to the bacterial Na/H exchanger NhaA. Human diseases which result from genetic abnormalities of the SLC9 family are discussed although the exact role of these transporters in causing any disease is not established, other than poorly functioning NHE3 in congenital Na diarrhea.
这篇关于人类 Na/H 交换器基因家族的简要综述,将 SLC9 基因家族分为三个亚群,引入了一种新的分类方法。本文回顾了该基因家族的结构和功能方面的进展,其结构是基于与细菌 Na/H 交换器 NhaA 的同源性。本文还讨论了人类疾病是如何由 SLC9 家族的遗传异常引起的,尽管这些转运蛋白在引起任何疾病方面的确切作用尚未确定,除了先天性 Na 腹泻中功能不良的 NHE3 之外。