Since the discovery of the CFTR gene in 1989, more than 2,500 mutations have been identified. Cystic fibrosis is caused by mutations in the CFTR gene, which encodes a chloride channel located on the …

Cystic fibrosis transmembrane conductance regulator (CFTR) is a membrane protein and anion channel in vertebrates that is encoded by the CFTR gene. [5][6] Geneticist Lap-Chee Tsui and his team …

The CFTR protein is a particular type of protein called an ion channel. In the lung, the CFTR ion channel moves chloride ions from inside the cell to outside the cell.

Sep 16, 2024 · The cystic fibrosis transmembrane conductance regulator (CFTR) is a complex protein that helps maintain fluid balance in several organs. Mutations in the CFTR protein can lead to …

Sep 25, 2024 · Information about sweat chloride, lung function, pancreatic status, and Pseudomonas infection rate in patients in the CFTR2 database with this variant or variant combination. Information …

Cystic fibrosis (CF) is a recessive genetic disease caused by mutations in a gene encoding a protein called Cystic Fibrosis Transmembrane Conductance Regulator (CFTR).

The CFTR gene provides instructions for making a protein called the CF transmembrane conductance regulator (CFTR). This protein functions as a channel across the membrane of cells that produce …