cystic fibrosis transport regulator
Noun A gene that, when mutated, causes cystic fibrosis. This gene provides instructions for making a protein that functions as a channel across the membrane of cells that produce mucus, sweat, saliva, and digestive enzymes. This channel regulates the movement of chloride ions and water in and out of cells, which is critical for maintaining the proper fluidity of secretions.
The term "cystic fibrosis transport regulator" is used in scientific and medical contexts to refer specifically to the genetic cause of the disease cystic fibrosis (CF). It is the formal name for the gene more commonly known as the CFTR gene.
Examples - A mutation in the cystic fibrosis transport regulator disrupts the normal flow of salt and water into and out of cells. - Research focuses on correcting the function of the defective cystic fibrosis transport regulator. - The discovery of the cystic fibrosis transport regulator was a major breakthrough in understanding the disease.
- "CFTR gene": This is the universally accepted acronym and more common term for the cystic fibrosis transport regulator. The full name is typically used in formal writing or for precision.
- The most common mutation in the CFTR gene is known as ΔF508.
- CFTR: The standard acronym for "cystic fibrosis transmembrane conductance regulator," which is synonymous with "cystic fibrosis transport regulator."
- CFTR gene: The most frequent way to refer to this gene.
- CFTR protein: The protein product encoded by the cystic fibrosis transport regulator gene.
- CFTR gene
- Cystic fibrosis transmembrane conductance regulator gene (full technical synonym)
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the gene that is mutated in cystic fibrosis
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