Am J Physiol Cell Physiol 2021 Oct 13. Epub 2021 Oct 13.
Telethon Institute of Genetics and Medicine (TIGEM), Campi Flegrei 34, 80078, Pozzuoli, NA, Italy; Department of Translational Medical Sciences, University of Naples,, Naples, Italy.
Chloride transport across cell membranes is broadly involved in epithelial fluid transport, cell volume and pH regulation, muscle contraction, membrane excitability, and organellar acidification. The human genome encodes at least 53 chloride transporting proteins with expression in cell plasma or intracellular membranes, which include chloride channels, exchangers and cotransporters, some having broad anion specificity. Loss of function mutations in chloride transporters cause a wide variety of human diseases, including cystic fibrosis, secretory diarrhea, kidney stones, salt wasting nephropathy, myotonia, osteopetrosis, hearing loss and goiter. Read More