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What genes are related to cystic fibrosis?
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Mutations in the CFTR gene cause cystic fibrosis.
The protein made by the CFTR gene forms a channel that controls the movement of salt and water into and out of cells. Mutations in the CFTR gene alter this protein in such a way that the channel is blocked. As a result, cells that line the passageways of the lungs, pancreas, and other organs produce abnormally thick, sticky mucus. This mucus obstructs the airways and glands, causing the characteristic signs and symptoms of cystic fibrosis.
Other factors likely influence the course of the condition. For example, changes in genes other than CFTR might help explain why some people with cystic fibrosis are more severely affected than others. Most of these genetic changes have not been identified, however.
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