Cystic Fibrosis Transport Regulator (Noun)
Meaning
The gene that is mutated in cystic fibrosis.
Classification
Nouns denoting body parts.
Examples
- The cystic fibrosis transport regulator gene is responsible for encoding a protein that functions as a channel transporting chloride ions across epithelial cell membranes.
- Mutations in the cystic fibrosis transport regulator gene can lead to the production of a defective protein, resulting in the characteristic symptoms of cystic fibrosis.
- The cystic fibrosis transport regulator gene is located on chromosome 7 and consists of 27 exons that code for the CFTR protein.
- Researchers have identified over 1,000 mutations in the cystic fibrosis transport regulator gene that can cause cystic fibrosis, with the most common mutation being the deletion of three nucleotides.
- The cystic fibrosis transport regulator gene plays a critical role in regulating the balance of salt and water in the body, and its dysfunction leads to the respiratory and digestive complications associated with cystic fibrosis.