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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.

Synonyms

  • CFTR
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