title: [Physiology and pathophysiology of Na⁺/HCO₃⁻ cotransporter NBCe1].
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.
authors.affiliation: Department of Biophysics and Molecular Physiology, School of Life Science and Technology, Huazhong University of Science and Technology, Wuhan 430074, China.
authors.forename: Ying
authors.initials: Y
authors.lastname: Liu
authors.forename: Qun-Wei
authors.initials: QW
authors.lastname: Lu
authors.forename: Li-Ming
authors.initials: LM
authors.lastname: Chen
mesh_terms: D000136:Acid-Base Equilibrium; D000141:Acidosis, Renal Tubular / Q000235:genetics; D000818:Animals; D006801:Humans; D051379:Mice; D009154:Mutation; D027982:Sodium-Bicarbonate Symporters / Q000235:genetics / Q000502:physiology*
chemical_list: C498898:SLC4A4 protein, human; C498899:Slc4a4 protein, mouse; D027982:Sodium-Bicarbonate Symporters