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CF is caused by a mutation in the gene cystic fibrosis transmembrane conductance regulator (CFTR). The most common mutation, Î´F508, is a deletion (Î´ signifying deletion) of three nucleotides that results in a loss of the amino acid phenylalanine (F) at the 508th position on the protein.ifferent people may have different degrees of symptoms. CF is an autosomal recessive disorder. It is caused by the presence of mutations in both copies of the gene for the protein cystic fibrosis transmembrane conductance regulator (CFTR). Those with a single working copy are carriers and otherwise mostly normal.
A person must inherit two copies of a defective CF gene -- one copy from each parent -- to have the disease. People who inherit only one copy are considered CF carriers and do not have the disease, but they can pass their copy of the defective gene on to their children.t other times, the change in a gene may cause the protein to not work or not be made at all. Cystic fibrosis is caused by mutations in the gene that produces the cystic fibrosis transmembrane conductance regulator (CFTR) protein.