cystic fibrosis transmembrane conductance regulator

a membrane protein coded for by a single gene, mutations of which are responsible for cystic fibrosis. This protein functions in many tissues as a chloride channel.
See also: cystic fibrosis.

Farlex Partner Medical Dictionary © Farlex 2012

CFTR

A gene on chromosome 7q31.2 that encodes cystic fibrosis transmembrane conductance regulator, a protein of the MRP subfamily of the superfamily of ATP-binding cassette (ABC) transporters, which transport various molecules across extra- and intracellular membranes and many of which are involved in multidrug resistance. CFTR functions as a chloride channel and controls the regulation of other transport pathways.

Molecular pathology
CFTR mutations cause cystic fibrosis and bilateral aplasia of the vas deferens.

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References in periodicals archive

Cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations in Asians with chronic pulmonary disease: a pilot study.

Epithelial Sodium and Chloride Channels and Asthma

Focus on "cystic fibrosis transmembrane conductance regulator is involved in airway epithelial wound repair"," American Journal of Physiology-Cell Physiology, vol.

Airway Epithelium Dysfunction in Cystic Fibrosis and COPD

Vertex Pharmaceuticals announced that Health Canada approved PrSYMDEKO for treating the underlying cause of cystic fibrosis in people ages 12 and older who have two copies of the F508del mutation in the cystic fibrosis transmembrane conductance regulator gene, or who have one copy of the F508del mutation and one mutation in the CFTR gene.

Vertex announces approval for PrSymdeko by Health Canada

Cystic fibrosis (CF) is a disabling and life-threatening autosomal recessive disorder resulting from mutations that cause dysfunction in the cystic fibrosis transmembrane conductance regulator (CFTR).

PTC Therapeutics announces the STRIVE Grant Awards Programme for the Cystic Fibrosis community

CA/GT microsatellite alleles within the cystic fibrosis transmembrane conductance regulator (CFTR) gene are not generated by unequal crossing over.

Detection of five rare cystic fibrosis mutations peculiar to southern Italy: implications in screening for the disease and phenotype characterization for patients with homozygote mutations

They accomplished this feat by inserting a gene that produces a normal protein, known as cystic fibrosis transmembrane conductance regulator (CFTR), into cells bearing a mutant gene that encodes an abnormal version of the protein.

Cystic fibrosis flaw reversed in vitro

The study was designed to evaluate the safety, tolerability and pharmacokinetics of PTI-801, a third generation cystic fibrosis transmembrane conductance regulator corrector.

Proteostasis announces 'positive' results from Phase 1 Study of PTI-801

- The New England Journal of Medicine (NEJM) has published two articles with results from Boston, Massachusetts-based serious disease therapeutics developer Vertex Pharmaceuticals Inc.'s (NASDAQ: VRTX) two Phase 3 studies of the tezacaftor/ivacaftor combination treatment, a medicine in development to treat the underlying cause of cystic fibrosis (CF) in people ages 12 and older who have certain mutations in the cystic fibrosis transmembrane conductance regulator gene, the company said.

Vertex Studies of the Tezacaftor/Ivacaftor Combination Treatment in Adolescents and Adults with Cystic Fibrosis Show Significant Improvements in Lung Function

Identification of mutations in exons 1 through 8 of the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene.

PCR-based test for two cystic fibrosis mutations (A455E, 711+1 G [right arrow] T) common among French Canadians

The international, multi-centre, double-blind, randomised, multi-dose, placebo-control trial will concentrate on assessing Resunab's safety and tolerability in up to 70 adults with cystic fibrosis regardless of their cystic fibrosis transmembrane conductance regulator mutation.

Corbus Pharmaceuticals doses first patient in Phase 2 clinical study of Resunab

Concert is initially developing CTP-656 as a potential monotherapy treatment for cystic fibrosis due to gating mutations of the gene that encodes for cystic fibrosis transmembrane conductance regulator, a protein, which regulates components of sweat, mucus clearance and digestion.

US FDA Grants Orphan Drug Designation for Concert Pharmaceuticals' CTP-656 for Cystic Fibrosis

The MiSeqDx Cystic Fibrosis system leverages its targeted resequencing chemistry to provide rapid and accurate identification of variants in the cystic fibrosis transmembrane conductance regulator (CFTR) gene.

Illumina Inc awarded CE Mark for MiSeqDx Cystic Fibrosis System in the clinical molecular diagnostics market