The gene that provides instructions for making the CFTR protein, which functions as a channel across the cell membrane. Variants in this gene, if passed on by both parents, can result in an individual having cystic fibrosis.
Use in clinical context
The cell membrane allows the movement of molecules in and out of the cell. The cystic fibrosis transmembrane conductance regulator (CFTR) is one of the proteins responsible for the movement of chloride ions in and out of the cell. Variants in the CFTR gene are recessive, but when present on both copies of the gene can result in an impaired channel that leads to cystic fibrosis, a condition that affects mucus production throughout the body.