The CFTR* gene tells the body to produce CFTR channel proteins. This gene provides the instructions that get passed to other parts of the cell where the CFTR protein is built. A normal CFTR gene makes normal CFTR proteins.
Once the CFTR proteins have been made they are sent to the cell surface. Here, they act like channels with gates, which open and close to allow water and particles such as chloride ions to move into and out of cells.1 This helps the body maintain a healthy balance of salt and water.
This balance of salt and water is needed to keep the mucus protecting our airways and digestive tract thin and watery. This ensures organs such as the lungs, pancreas, liver and intestines can all function normally.2
CFTR proteins in a normal cell
*CFTR = Cystic fibrosis transmembrane conductance regulator
1. Wang W, Linsdell P. Conformational change opening the CFTR chloride channel pore coupled to ATP-dependent gating. Biochimica et Biophysica Acta (BBA) - Biomembrane 2012; 1818(3): 851 ̶ 860.
2. MacDonald K, McKenzie K, Zeitlin P. Cystic Fibrosis Transmembrane Regulator Protein Mutations. Pediatric Drugs 2007; 9(1): 1 ̶ 10.