Cystic fibrosis transmembrane conductance regulator
mammalian protein found in Homo sapiens
Cystic fibrosis transmembrane conductance regulator (CFTR) is a membrane protein and anion channel in vertebrates that is encoded by the CFTR gene.
Geneticist Lap-Chee Tsui and his team identified the CFTR gene in 1989 as the gene linked with cystic fibrosis.
The CFTR gene codes for an ABC transporter-class ion channel protein that conducts chloride and bicarbonate ions across epithelial cell membranes. Mutations of the CFTR gene affecting anion channel function lead to dysregulation of epithelial lining fluid (mucus) transport in the lung, pancreas and other organs, resulting in cystic fibrosis. Complications include thickened mucus in the lungs with frequent respiratory infections, and pancreatic insufficiency giving rise to malnutrition and diabetes. These conditions lead to chronic disability and reduced life expectancy. In male patients, the progressive obstruction and destruction of the developing vas deferens (spermatic cord) and epididymis appear to result from abnormal intraluminal secretions, causing congenital absence of the vas deferens and male infertility, and found associated with an imbalance of fatty acids.
Tissue and intracellular localization
The CFTR is found in the epithelial cells of many organs including the lung, liver, pancreas, digestive tract, and the female reproductive tract and male reproductive tract including the testis, Sertoli cells, spermatozoa. epididymis, and the vas deferens.
In the airways of the lung, CFTR is most highly expressed by rare specialized cells called pulmonary ionocytes.
“Cystic fibrosis transmembrane conductance regulator” enters the record as mammalian protein found in Homo sapiens. Crown Archives preserves that source wording while asking what Cystic, fibrosis and transmembrane can confirm, complicate or overturn.
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This entry incorporates text from “Cystic fibrosis transmembrane conductance regulator” on English Wikipedia. Contributors are listed in the page history. Text is available under the Creative Commons Attribution-ShareAlike 4.0 License. Selected authority identifiers and statements are retrieved from Wikidata under CC0; their references and qualifiers remain part of the verification path.