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.
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.
Segen's Medical Dictionary. © 2012 Farlex, Inc. All rights reserved.