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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.
Rating Newest Oldest. Best Answer: People with cystic fibrosis inherit a defective gene on chromosome 7 called CFTR (cystic fibrosis transmembrane conductance regulator). The protein produced by this gene normally helps salt (sodium chloride) move in and out of cells.ssociated Disorders: Defective versions of this protein, caused by CFTR gene mutations, can lead to the development of cystic fibrosis (CF) and congenital bilateral aplasia of the vas deferens (CBAVD). You can click on this link to see a diagram of the gene: http://www.ornl.gov/sci/techresources/Hu...