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  • Molecular assay reagents intended to identify deletions or duplications of the cystic fibrosis transmembrane conductance regulator (CFTR) gene, located at chromosome 7q31.2, which encodes the protein cystic fibrosis transmembrane conductance regulator. This protein functions as a channel across the membrane of cells that produce mucus, sweat, saliva, tears, and digestive enzymes. Transport of chloride ions helps control the movement of water in tissues and maintains the fluidity of mucus and other secretions. Genetic variants at this locus have been associated with hereditary pancreatitis, congenital bilateral absence of the vas deferens, cystic fibrosis, and bronchiectasis. Additionally, specific genetic variants have been associated with response to the drugs ivacaftor and lumacaftor in patients in whom cystic fibrosis has been diagnosed.
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