Mutations in the CFTR gene lead to the production of a defective CFTR protein, which in turn disrupts the transport of chloride ions and water across cell membranes. This results in the accumulation of thick, sticky mucus in various organs such as the lungs, pancreas, and digestive tract. The primary disease associated with CFTR mutations is Cystic Fibrosis, a condition characterized by chronic respiratory infections, pancreatic enzyme insufficiency, and other complications.
