CFTR gene

The CFTR gene provides instructions for making a protein called the cystic fibrosis transmembrane conductance regulator, which helps regulate the movement of salts and fluids in and out of cells. This process is important for maintaining the thin, free-flowing mucus in the lungs, digestive system, and other organs. When the CFTR gene has mutations, it can cause the protein to function improperly or not be made at all, leading to thick, sticky mucus buildup. This can cause breathing difficulties, infections, and digestive issues, which are characteristic of cystic fibrosis.