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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.
Cystic fibrosis occurs because of mutations in the gene that makes a protein called CFTR (cystic fibrosis transmembrane regulator). A person with CF produces abnormal CFTR protein-or no CFTR protein at all, which causes the body to make thick, sticky mucus instead of the thin, watery kind.Cystic Fibrosis affects both males and females, but is not contagious to healthy individuals.Cystic fibrosis is an inherited disease caused by mutations (changes) in a gene on chromosome 7, one of the 23 pairs of chromosomes that children inherit from their parents.Humans have 23 pairs of chromosomes in their DNA. The CF gene is found on chromosome number 7. person with CF produces abnormal CFTR protein-or no CFTR protein at all, which causes the body to make thick, sticky mucus instead of the thin, watery kind. Cystic Fibrosis affects both males and females, but is not contagious to healthy individuals.