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