cystic fibrosis transmembrane conductance regulator
Also written as: CFTR — cystic fibrosis transmembrane conductance regulator
Protein that functions as a chloride channel; mutations in its gene cause cystic fibrosis by disrupting normal salt and water transport.
Full Definition
The cystic fibrosis transmembrane conductance regulator (CFTR) is a critical membrane protein that functions as an ATP-gated chloride channel and regulates the transport of chloride ions across epithelial cell membranes. Located primarily in the respiratory, digestive, and reproductive systems, CFTR plays an essential role in maintaining proper salt and water balance in mucous secretions. Mutations in the CFTR gene, located on chromosome 7, result in defective or absent protein function, leading to the production of thick, sticky secretions characteristic of cystic fibrosis. Over 2000 different CFTR mutations have been identified, with delta F508 being the most common. Understanding CFTR function has led to the development of targeted therapies such as CFTR modulators that can restore partial protein function in certain patient populations.
Usage
Usage note: Always use CFTR as abbreviation after first use. Distinguish between CFTR protein and CFTR gene in context.
In Context
- "Genetic testing confirmed homozygous delta F508 mutations affecting cystic fibrosis transmembrane conductance regulator function." — Genetics laboratory report
- "The new CFTR modulator therapy showed promising results in restoring chloride channel function in patients with specific mutations." — Clinical trial summary