cystic fibrosis transmembrane conductance regulator


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Related to cystic fibrosis transmembrane conductance regulator: CFTR

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.

cystic fibrosis transmembrane conductance regulator

a regulator of secretion in many exocrine tissues. Abnormalities in the gene cause cystic fibrosis, leading to abnormal chloride channels in cell membranes of the respiratory epithelium, pancreas, salivary glands, sweat glands, intestines, and reproductive tract. Also called cystic fibrosis transmembrane regulator, cystic fibrosis transmembrane regulator protein.

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.
References in periodicals archive ?
The cytosolic termini of the beta- and gamma-ENaC subunits are involved in the functional interactions between cystic fibrosis transmembrane conductance regulator and epithelial sodium channel.
Effects of rhinovirus infection on the expression and function of cystic fibrosis transmembrane conductance regulator and epithelial sodium channel in human nasal mucosa.
Cystic fibrosis transmembrane conductance regulator gene abnormalities in patients with asthma and recurrent neutrophilic bronchitis.
Molecular characterization of cystic fibrosis transmembrane conductance regulator (CFTR) coding region and splice junction.
A nonsense mutation (R1158X) and a splicing mutation (3849+4A[right arrow]G) in exon 19 of the cystic fibrosis transmembrane conductance regulator gene.
VX-809, an oral investigational Cystic Fibrosis Transmembrane Conductance Regulator protein (CFTR) corrector, was well-tolerated across all four dose groups studied.
Vertex is currently conducting the ENDEAVOR Phase 3 registration program of VX-770, an investigational Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) potentiator compound for the treatment of CF.
has in-licensed from the University of California Regents additional small-molecule cystic fibrosis transmembrane conductance regulator (CFTR) inhibitor technology including gastrointestinal (GI) and polycystic kidney disease (PKD) indications.
The cystic fibrosis transmembrane conductance regulator (CFTR) is a cAMP-activated chloride ion (Cl-) channel expressed in various epithelial cells throughout the body, and is a pharmacological target for both activators and inhibitors.
OneWorld Health and the Novartis Institutes for BioMedical Research will join forces to discover drugs to treat infectious diarrhea via inhibition of the Cystic Fibrosis Transmembrane conductance Regulator (CFTR) chloride channel.
Cystic Fibrosis and secretory diarrhea have a shared disease mechanism involving the Cystic Fibrosis Transmembrane conductance Regulator.
At both the 150 mg and 250 mg doses, significant improvements in lung function, as measured by an increase in FEV1, and significant improvements in the function of the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) protein, as measured by changes from baseline in sweat chloride levels and changes in nasal potential difference (NPD), were observed.

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