CFTR
Học thuậtThân thiện
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
- the gene that is mutated in cystic fibrosis