CFTR

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Definition

Noun: - The Cystic Fibrosis Transmembrane Conductance Regulator gene: "CFTR" is the specific gene that, when mutated, causes the genetic disorder cystic fibrosis. It provides instructions for making a protein that functions as a channel across cell membranes, primarily regulating the movement of chloride ions and water in and out of cells.

Usage
  • CFTR is used as a proper noun and is almost always written in uppercase. It is a technical term primarily used in genetics, molecular biology, and medicine.
  • It typically functions as a noun modifier before other nouns (e.g., , , ).
Examples
  • As a noun:
    • Researchers are studying new therapies that target the defective CFTR protein.
    • A mutation in the CFTR gene disrupts the normal flow of salt and fluids.
    • The discovery of the CFTR was a major breakthrough in understanding cystic fibrosis.
Advanced Usage
  • "CFTR modulator": A class of drugs that correct the function of the defective CFTR protein.
    • The patient's treatment includes a CFTR modulator to improve protein function.
  • "CFTR-dependent": Describing a biological process that requires the normal activity of the CFTR protein.
    • This secretion is a CFTR-dependent process.
Variants and Related Words
  • Cystic Fibrosis Transmembrane Conductance Regenerator (CFTR): The full name of the gene/protein.
  • CFTR gene: The specific genetic sequence.
  • CFTR protein: The functional product encoded by the gene.
Synonyms
  • Cystic fibrosis gene: A less technical synonym that describes its association with the disease.
  • ABCC7: An alternative, less common gene symbol for CFTR.
Notes
  • CFTR is an initialism (each letter is pronounced: "C-F-T-R"). It is not an acronym pronounced as a single word.
  • In formal scientific writing, it is often defined at first use: ""
Noun
  1. the gene that is mutated in cystic fibrosis