Physiology and pathophysiology of Na⁺/HCO₃⁻ cotransporter NBCe1.
- Author:
Ying LIU
1
;
Qun-Wei LU
;
Li-Ming CHEN
Author Information
1. Department of Biophysics and Molecular Physiology, School of Life Science and Technology, Huazhong University of Science and Technology, Wuhan 430074, China.
- Publication Type:Journal Article
- MeSH:
Acid-Base Equilibrium;
Acidosis, Renal Tubular;
genetics;
Animals;
Humans;
Mice;
Mutation;
Sodium-Bicarbonate Symporters;
genetics;
physiology
- From:
Acta Physiologica Sinica
2012;64(6):729-740
- CountryChina
- Language:Chinese
-
Abstract:
Na⁺/HCO₃⁻ cotransporter NBCe1 is an electrogenic member of the solute carrier 4 (SLC4) family and plays important roles in intracellular pH regulation as well as transepithelial HCO₃⁻ movement. The physiological and pathological significance of NBCe1 has been well established by genetic studies with humans as well as knock-out study with mouse. NBCe1 is expressed in diverse tissues in mammals. The transporter plays an essential role in the maintenance of acid-base homeostasis in our body, being responsible for more ~80% of HCO₃⁻ reabsorption in the proximal renal tubule. In humans, a number of SLC4A4 mutations have been associated with proximal renal tubule acidosis that is often accompanied with short stature, ocular abnormalities (including cataract, glaucoma, and band keratopathy), migraine, and/or defects in dental enamel development. In the present article, we review the molecular physiology, the structure/function relationship, the mechanisms underlying the functional regulation of NBCe1, as well as the physiological and pathological roles of the transporter.
