Abstract
Cystic fibrosis transmembrane conductance regulator (CFTR) is a transmembrane protein that belongs to the family of adenosine triphosphate (ATP) binding cassette proteins. It is expressed in multiple tissues throughout the body, where it plays a key role in the regulation of ion transport across cell membranes in mucosal surfaces [1]. CFTR conducts chloride (Cl) and bicarbonate (HCO3-), and it also appears to reduce sodium (Na) transport through inhibition of the epithelial sodium channel (ENaC). In the absence of CFTR function the loss of ion transport has different effects on different tissues. In the sweat duct, CFTR serves to resorb NaCl from sweat, and in its absence there is excessive salt loss through sweat. In organs such as the pancreas and the liver, loss of ion transport results in viscous mucus secretions and ductal obstruction.
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Filbrun, A.G., Lahiri, T., Ren, C.L. (2016). Pathophysiology of Cystic Fibrosis. In: Handbook of Cystic Fibrosis. Adis, Cham. https://doi.org/10.1007/978-3-319-32504-0_2
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DOI: https://doi.org/10.1007/978-3-319-32504-0_2
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