The cystic fibrosis gene: mutation and the function of CFTR protein

The spectrum of mutations identified in cystic fibrosis patients includes a major defect (delta F508), found in 70% of CF chromosomes from French patients, and a large number of infrequent mutations. This significant heterogeneity of molecular defects precludes large scale screening for the disease at the time being. The presumptive structure of the Cystic Fibrosis Transmembrane conductance Regulator (CFTR), the membrane protein encoded by the CF gene, is briefly recalled. The role this protein is thought to play in the regulation of chloride ion transport across epithelial membranes is discussed, along with the new insights into the molecular mechanisms of CF gained as a result of identification of the CF gene.