CFTR


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Related to CFTR: cystic fibrosis, CFTRI

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.

CFTR

Abbreviation for cystic fibrosis transmembrane regulator.
References in periodicals archive ?
Recently published early phase 2 clinical trial results of two new-generation, small-molecule CFTR correctors, VX-445 and VX-659 in triple combination with tezacaftor and ivacaftor ('triple therapy'), show promising results in people with two copies of p.Phe508del.[12,13] None of these drugs are currently registered and licensed in SA, and until the cost (currently USD300 000 per annum) is substantially reduced, it is unlikely that medical schemes or the public health sector will fund these drugs in the near future.
Sample measurements above a defined cutoff are then followed up by genetic analysis to determine the presence of specific mutations in the CFTR gene (34).
Immunofluorescence and confocal analysis on CFTR were performed as established by us in a previous work on CFBE cells [31].
Novel mutations 754delT and GGTGGCdel/TTG ins: The novel mutation 754delT was discovered in exon 13 of the CFTR gene.
Furthermore, ROS causes CFTR dysfunction [2,25, 56], which we found to further exacerbate CS-induced autophagy impairment resulting in phagocytic defect.
Li et al., "Requirements for efficient correction of Deltaf508 CFTR revealed by analyses of evolved sequences," Cell, vol.
Hartl, "CFTR: cystic fibrosis and beyond," European Respiratory Journal, vol.
It could be that a variant in another gene counteracts that specific mutation in the CFTR gene.
Cystic fibrosis remains a clinical diagnosis when evidence of at least one phenotypic feature of the disease (table 1) exists in the presence of laboratory evidence of a CFTR abnormality.
Genetic study for the evaluation of CFTR gene might be also helpful to evaluate the presence of latent cystic fibrosis.