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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.
The CF gene was discovered in 1989 on chromosome pair 7 -- volume 7 in our genetic encyclopedia -- by researchers supported by the CF Foundation. Cystic fibrosis is an example of a recessive disease. That means a person must have a mutation in both copies of the CF gene to have CF.ystic fibrosis is caused by mutations in the gene that produces the cystic fibrosis transmembrane conductance regulator (CFTR) protein. This protein is responsible for regulating the flow of salt and fluids in and out of the cells in different parts of the body.