CFTR function, pathology and pharmacology at single-molecule …
2023年3月22日 · CFTR belongs to the ATP-binding cassette transporter family of proteins, but uniquely functions as an ion channel 4. It consists of two transmembrane domains that form an ion permeation pathway...
Basics of the CFTR Protein - Cystic Fibrosis Foundation
Cystic fibrosis occurs when the cystic fibrosis transmembrane conductance regulator (CFTR) protein is either not made correctly, or not made at all. By understanding how the protein is made, scientists have been able to develop treatments that target the protein and restore its function.
CFTR - Johns Hopkins Cystic Fibrosis Center
Two transmembrane domains (TMD1 and TMD2), two cytoplasmic nucleotide-binding domains (NBD1 and NBD2) and a regulatory (R) domain make up the CFTR protein. Each domain has a special function when it comes to transporting chloride through the cell surface.
Cystic fibrosis transmembrane conductance regulator - Wikipedia
CFTR functions as phosphorylation and ATP-gated anion channel, increasing the conductance for certain anions (e.g. Cl −) to flow down their electrochemical gradient. ATP-driven conformational changes in CFTR open and close a gate to allow the transmembrane flow of anions down their electrochemical gradient . [ 5 ]
CFTR gene - MedlinePlus
The CFTR gene provides instructions for making a protein called the CF transmembrane conductance regulator (CFTR). This protein functions as a channel across the membrane of cells that produce mucus, sweat, saliva, tears, and digestive enzymes.
Role of CFTR in epithelial physiology - PMC - PubMed Central (PMC)
CFTR regulates many mechanisms in epithelial physiology, such as maintaining epithelial surface hydration and regulating luminal pH. Indeed, recent studies have identified luminal pH as an important arbiter of epithelial barrier function and innate defence, particularly in …
CFTR Protein: Not Just a Chloride Channel? - PMC - PubMed …
As shown in this review article, the various functions of the CFTR protein are crucial for a number of physiological processes and due to its wide distribution, the loss of functional CFTR protein in CF leads to a large number of metabolic dysfunctions and explains the complexity of CF.
The Clinical Biology of Cystic Fibrosis Transmembrane Regulator Protein
Normal cystic fibrosis (CF) transmembrane regulator (CFTR) protein has multiple functions in health and disease. Many mutations in the CFTR gene produce abnormal or absent protein. CFTR protein dysfunction underlies the classic CF phenotype of ...
Cystic fibrosis - Nature Reviews Disease Primers
2024年8月8日 · Correct CFTR function is important for hydration and pH regulation of mucosal surfaces and epithelial secretions that are essential for organ function and homeostasis.
Cystic Fibrosis - GeneReviews® - NCBI Bookshelf
2001年3月26日 · CFTR encodes cystic fibrosis transmembrane conductance regulator (CFTR), an integral membrane protein that functions as a regulated chloride channel located at the apical membrane of epithelia, transporting chloride ions into and out of cells. Once chloride is transported out of the cell, sodium will join, forming sodium chloride (salt), which ...