The Cystic Fibrosis Transmembrane Conduction Regulator (CFTR) protein is a ligand-gated chloride channel found in the cell membranes of epithelial cells of many organs such as the lungs, pancreas and reproductive tracts. structures are consistent with an NBD-controlled, alternating access mechanism of active transport by MRP1 [19], as proposed for other ABC proteins [4,15,16]. Similarly, the CFTR or cystic fibrosis transmembrane conductance regulator protein is manufactured by the alignment of the 1480 amino acids together. The transport of other molecules (3) is speculative at present, as is the suggestion that CFTR can affect other membrane molecules, perhaps by direct protein–protein interactions (4). CFTR is not a pump, rather it is a Cl-channel that is expressed by many epithelial cells. After the formation of the CFTR protein, they get folded in a three-dimensional shape (3-D shape). The CFTR protein is arranged around the cell membrane in a tube form to cover the cell. Most ABC proteins work as active transporters (pumps). (c) Cryo-EM structures of human CFTR in an inactive, dephosphorylated state (left) [12], and zebrafish The high solute concentration outside of the lumen drives water out of the cell, keeping the mucous layer moist. The most common mutation, called delta F508, is a deletion of one amino acid at position 508 in the CFTR protein. Cystic fibrosis. Mutations in the CFTR gene lead to a defective CFTR channel protein, a major regulator of the transcellular transport of chloride and bicarbonate. A unique and physiologically important member of the ABC transporter family is the protein CFTR. The CFTR gene encodes a 1480-amino acid long transmembrane protein with a symmetrical structure (): a repeat composed of a transmembrane region (TMD) containing six transmembrane helices (TM) and a nucleotide binding domain (NBD), separated by a large hydrophilic regulatory (R) domain.These features are characteristic for a large family of ATP-Binding Cassette … The CFTR may transport ATP and bicarbonate ions (2), but this has not been observed in all laboratories. This allows the cells to transport water due to the active transport of Na+ ions. CFTR mutations were originally identified in patients with cystic fibrosis (CF), but later they were also found to be associated with male vas deference infertility and chronic or recurrent pancreatitis. Most of these mutations change single protein building blocks (amino acids) in the CFTR protein or delete a small amount of DNA from the CFTR gene. Various studies of CFTR protein function have shown that in the absence of phosphorylation of the R domain, the channel is closed and chloride ion transport ceases . Chloride ions follow afterwards. People with cystic fibrosis have a mutation to this gene and have progressive respiratory problems. In healthy people, it allows chloride ions to flow freely out of cells. The CFTR gene is coding a protein called CFTR (Cystic fibrosis transmembrane conductance regulator). Clinical Relevance Cystic Fibrosis. More than 1,000 mutations in the CFTR gene have been identified in people with cystic fibrosis. This protein is an ion channel, which allows passive transport of the Cl- ions through the cell membrane in both directions. The CFTR requires ATP in order to function, making its Cl – transport a form of active transport. This characteristic puzzled researchers for a long time because the Cl – ions are actually flowing down their concentration gradient when transported out of cells. 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