How Does The Gene Mutation Cause Cystic Fibrosis?
The cystic fibrosis gene was identified in 1989. Since then, a great deal has been learned about this gene and its protein product. The biochemical abnormality in CF results from a mutation in a gene that produces a protein responsible for the movement through the cell membranes of chloride ions (a component of sodium chloride, or common table salt). The protein is called CFTR–cystic fibrosis transmembrane regulator.