The CFTR gene (Cystic Fibrosis Transmembrane Conductance Regulator) is a gene located on chromosome 7 that provides instructions for making a protein responsible for regulating the movement of salt and water in and out of cells. This protein plays a crucial role in maintaining the balance of fluids in various tissues, particularly in the lungs and digestive system.
Mutations in the CFTR gene can lead to cystic fibrosis, a genetic disorder characterized by thick, sticky mucus buildup in the lungs and digestive tract. This condition can cause severe respiratory and digestive problems, highlighting the importance of the CFTR protein in overall health and function.