Cystic fibrosis is caused by mutations, or changes, in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. This gene provides the code that tells the body how to make the CFTR protein. The protein controls the salt and water balance in the lungs and other tissues.
Basics of the CFTR Protein - Cystic Fibrosis Foundation
The cystic fibrosis transmembrane conductance regulator (CFTR) protein helps to maintain the balance of salt and water on many surfaces in the body, such as the surface of the lung. When the protein is not working correctly, chloride — a component of salt — becomes trapped in cells.
CFTR - Johns Hopkins Cystic Fibrosis Center
The cystic fibrosis transmembrane conductance regulator (CFTR) is defective in cystic fibrosis (CF). This protein is a channel that sits on the surface of cells and transports chloride and other molecules, such as bicarbonate.
CF Genetics: The Basics - Cystic Fibrosis Foundation
Cystic fibrosis is caused by mutations in the gene that produces the cystic fibrosis transmembrane conductance regulator (CFTR) protein. This protein is responsible for regulating the flow of salt and fluids in and out of the cells in different parts of the body.
Cystic fibrosis transmembrane conductance regulator - Wikipedia
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 identified the CFTR gene in 1989 as the gene linked with CF (cystic fibrosis). [7]
Cystic Fibrosis Mutation Database
The specific aim of the database is to provide up to date information about individual mutations in the CFTR gene. In a major upgrade in 2010, all known CFTR mutations and sequence variants have been converted to the standard nomenclature recommended by the Human Genome Variation Society.
CyFi-MAP: an interactive pathway-based resource for cystic …
Nov 15, 2021 — Cystic fibrosis (CF) is a life-threatening autosomal recessive disease caused by more than 2100 mutations in the CF transmembrane conductance regulator (CFTR) gene, generating variability in...
CFTR function, pathology and pharmacology at single-molecule
Mar 22, 2023 — The cystic fibrosis transmembrane conductance regulator (CFTR) is an anion channel that regulates salt and fluid homeostasis across epithelial membranes1.
Cystic Fibrosis | New England Journal of Medicine
Nov 1, 2023 — Figure 1. Classes of CFTR Variants. Shown are the classes of CFTR variants causing cystic fibrosis and targets for current CFTR modulators. CFTR deficiency in airway epithelium causes a...
Cystic fibrosis | Nature Reviews Disease Primers
Aug 8, 2024 — Cystic fibrosis is a rare genetic disease caused by mutations in CFTR, the gene encoding cystic fibrosis transmembrane conductance regulator (CFTR). The discovery of CFTR in 1989 has enabled the...