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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.
Introduction. Cystic Fibrosis is an inherited disease caused by a genetic mutation (defect) on chromosome 7. The defective gene results in abnormalities in the production and function of a protein called the cystic fibrosis transmembrane conductance regulator (CFTR).In healthy cells CFTR acts as a chloride channel and a regulator of sodium, chloride and bicarbonate transport.ntroduction. Cystic Fibrosis is an inherited disease caused by a genetic mutation (defect) on chromosome 7. The defective gene results in abnormalities in the production and function of a protein called the cystic fibrosis transmembrane conductance regulator (CFTR).