WebNov 23, 2021 · In cystic fibrosis, a defect (mutation) in a gene — the cystic fibrosis transmembrane conductance regulator (CFTR) gene — changes a protein that regulates the movement of salt in and out of cells. The result is thick, sticky mucus in the respiratory, digestive and reproductive systems, as well as increased salt in sweat.
WebNov 21, 2023 · Cystic fibrosis is caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Inheriting two mutated genes causes cystic fibrosis. People who inherit one mutated CFTR gene are carriers, who are generally healthy, although they can pass the mutation to their children.
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About Cystic Fibrosis - National Human Genome Research Institute
WebDec 27, 2013 · Mutations in a single gene - the Cystic Fibrosis Transmembrane Regulator (CFTR) gene - causes CF. The gene was discovered in 1989. Since then, more than 900 mutations of this single gene have been identified. In normal cells, the CFTR protein acts as a channel that allows cells to release chloride and other ions.
