CFTR is the human gene on chromosome 7 that is mainly mutated in cystic fibrosis.
The CFTR gene provides instructions for a membrane protein that functions as an ATP-gated chloride channel. It helps regulate chloride and bicarbonate movement across epithelial cells, including cells lining the airways, pancreas, intestine, and sweat glands. When CFTR function is impaired, secretions can become unusually thick and salty.
Cystic fibrosis is inherited in an autosomal recessive pattern. A person usually develops the condition after inheriting a disease-causing CFTR variant from both parents. The most common variant in many populations, F508del, removes phenylalanine at position 508 of the CFTR protein, but hundreds of other variants are known.
CFTR is not itself the name of the disorder. The gene’s official symbol is CFTR, derived from “cystic fibrosis transmembrane conductance regulator.” Modern treatments can target particular CFTR protein defects, so identifying the variant can help guide therapy.