Cystic fibrosis transmembrane conductance regulator (CFTR) is an ABC (ATP-binding cassette) transporter-class protein that functions in transporting chloride ions across epithelial cells found in the lung, liver, pancreas, digestive tract, reproductive tract, and skin. Proper function of these channels ensures that organs such as the lungs and kidneys function properly. The gene is found on on the human chromosome location 7, (long arm) position q31.2.
Mutations in CFTR can cause two genetic disorders, congenital bilateral absence of vas deferens and the more widely known disorder cystic fibrosis. Both disorders arise from the blockage of the movement of salt and water into and out of cells. In congenital bilateral absence of vas deferens the protein is still functional but not at normal efficiency, this disturbance leads to the production of a large amount of thick mucus that blocks the developing vas deferens. In people with mutations giving rise to cystic fibrosis, the blockage of salt and solute transport occurs in cells that line the passageways of the lungs, pancreas, and other organs produce the abnormally thick mucus characteristic of cystic fibrosis.
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