CFTR
CFTR encodes the cystic fibrosis transmembrane conductance regulator, a chloride and bicarbonate channel expressed in epithelial cells of the lung, pancreas, and other secretory tissues; loss-of-function mutations cause cystic fibrosis by disrupting mucus hydration and clearance. Certain CFTR mutation classes (e.g., gating mutations such as G551D) determine responsiveness to CFTR modulator drugs like ivacaftor, which restores channel function for eligible genotypes.
Traits CFTR shapes
Reference databases
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