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CFTR - Johns Hopkins Cystic Fibrosis Center
https://hopkinscf.org/knowledge/cftr/
WebThe cystic fibrosis transmembrane conductance regulator (CFTR) is defective in cystic fibrosis (CF). This protein is a channel that sits on the surface of cells and transports chloride and other molecules, such as bicarbonate. The gene that encodes the CFTR protein, which is also called CFTR, is located on chromosome 7.
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CFTR gene: MedlinePlus Genetics
https://medlineplus.gov/genetics/gene/cftr/
WebThe 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.
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Cystic fibrosis transmembrane conductance regulator - Wikipedia
https://en.wikipedia.org/wiki/Cystic_fibrosis_transmembrane_conductance_regulator
WebCystic 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 …
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CF Genetics: The Basics | Cystic Fibrosis Foundation
https://www.cff.org/intro-cf/cf-genetics-basics
WebCystic fibrosis is caused by mutations in the gene that produces the cystic fibrosis transmembrane conductance regulator (CFTR) protein. In people with CF, mutations in the CFTR gene can disrupt the normal production or functioning of the CFTR protein found in the cells of the lungs and other parts of the body.
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CFTR Gene - GeneCards | CFTR Protein | CFTR Antibody
https://www.genecards.org/cgi-bin/carddisp.pl?gene=CFTR
WebApr 2, 2024 · CFTR (CF Transmembrane Conductance Regulator) is a Protein Coding gene. Diseases associated with CFTR include Cystic Fibrosis and Vas Deferens, Congenital Bilateral Aplasia Of . Among its related pathways are wtCFTR and delta508-CFTR traffic / Generic schema (norm and CF) and Selective autophagy .
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Cystic Fibrosis - Causes | NHLBI, NIH
https://www.nhlbi.nih.gov/health/cystic-fibrosis/causes
WebNov 21, 2023 · The CFTR gene provides instructions for the CFTR protein . People who inherit two copies of a mutated CFTR gene (one copy from each biological parent) will have cystic fibrosis. Having two mutated CFTR genes means that the body makes a CFTR protein that doesn’t work like it should.
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Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) - Healthline
https://www.healthline.com/health/cystic-fibrosis/cystic-fibrosis-transmembrane-conductance-regulator
WebApr 25, 2023 · Genetic testing. Takeaway. CFTR is a protein essential to wet surfaces throughout your body, like the airways of your lungs. People with cystic fibrosis have a gene mutation that causes...
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CFTR CF transmembrane conductance regulator [ (human)]
https://www.ncbi.nlm.nih.gov/gene/1080
WebMutations in this gene cause cystic fibrosis, the most common lethal genetic disorder in populations of Northern European descent. The most frequently occurring mutation in cystic fibrosis, DeltaF508, results in impaired folding and trafficking of the encoded protein.
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CFTR variant testing: a technical standard of the American …
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8268680/
WebCFTR. The (cystic fibrosis transmembrane conductance regulator) gene is located on chromosome 7q31.2 and contains 27 coding exons. The reference messenger RNA (mRNA) and protein sequences are and , respectively. Pancreatic insufficiency occurs in cases of classic CF, and neonatal meconium ileus occurs in 15% to 20% of newborns …
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CFTR function, pathology and pharmacology at single-molecule …
https://www.nature.com/articles/s41586-023-05854-7
WebMar 22, 2023 · The cystic fibrosis transmembrane conductance regulator (CFTR) is an anion channel that regulates salt and fluid homeostasis across epithelial membranes 1....
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