title: Mis-trafficking of bicarbonate transporters: implications to human diseases.
abstract: Bicarbonate is a waste product of mitochondrial respiration and one of the main buffers in the human body. Thus, bicarbonate transporters play an essential role in maintaining acid-base balance but also during fetal development as they ensure tight regulation of cytosolic and extracellular environments. Bicarbonate transporters belong to two gene families, SLC4A and SLC26A. Proteins from these two families are widely expressed, and thus mutations in their genes result in various diseases that affect bones, pancreas, reproduction, brain, kidneys, eyes, heart, thyroid, red blood cells, and lungs. In this minireview, we discuss the current state of knowledge regarding the effect of SLC4A and SLC26A mutants, with a special emphasis on mutants that have been studied in mammalian cell lines and how they correlate with phenotypes observed in mice models.
authors: Membrane Protein Research Group, Department of Physiology, School of Molecular and Systems Medicine, University of Alberta, Edmonton, AB, Canada.
authors: Ensaf Y
authors: EY
authors: Almomani
authors: Carmen Y S
authors: CY
authors: Chu
authors: Emmanuelle
authors: E
authors: Cordat
mesh_terms: D000136:Acid-Base Equilibrium; D000818:Animals; D001457:Anion Exchange Protein 1, Erythrocyte / Q000235:genetics / Q000378:metabolism*; D027321:Anion Transport Proteins / Q000235:genetics / Q000378:metabolism*; D001639:Bicarbonates / Q000378:metabolism*; D002460:Cell Line; D004194:Disease; D006801:Humans; D009154:Mutation; D020033:Protein Isoforms / Q000235:genetics / Q000378:metabolism; D000076988:Sulfate Transporters
chemical_list: D001457:Anion Exchange Protein 1, Erythrocyte; D027321:Anion Transport Proteins; D001639:Bicarbonates; D020033:Protein Isoforms; C473560:SLC26A1 protein, human; C454201:SLC4A1 protein, human; D000076988:Sulfate Transporters