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The cystic fibrosis transmembrane conductance regulator (CFTR) gene is directly related to a protein by the same name. The CFTR protein is found in the surface of cells lining the lungs, digestive system and sweat glands. The symptoms of CF are caused by CFTR protein mutations. When the CFTR protein stops chloride from passing through cells, thick and sticky mucus is produced in the lungs and digestive system.Since its discovery in 1989, more than 1,000 mutations of this single gene that can cause CF have been identified. Often, these mutations either substitute or delete parts of your cell’s DNA. The most common mutation, present in approximately 70 percent of CF patients, is called delta F508 or ?F508. Here, three DNA pieces in the CFTR gene are deleted leading to the loss of an amino acid called phenylalanine (abbreviated F) at position 508 of the CFTR protein. In normal cells, the CFTR protein acts as a channel that transports chloride into and out of cells, as well as regulating the passage of salts (ion channels). The CFTR can also transport other ions and chemicals such as bicarbonate.
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