Cystic Fibrosis Gene

Cystic fibrosis is caused by mutations in a specific gene called the CFTR gene. This gene provides instructions for making a protein that regulates the flow of salt and fluids in and out of cells, especially in the lungs, pancreas, and other organs. When the gene has a mutation, the protein doesn’t work properly, leading to thick, sticky mucus build-up that can clog airways and affect digestion. This can cause breathing problems, infections, and nutritional issues. Being aware of the CFTR gene helps in diagnosing, managing, and developing treatments for cystic fibrosis.