CFTR
CFTR
CFTR (pronunciation: see-eff-tee-arr), or Cystic Fibrosis Transmembrane Conductance Regulator, is a protein that in humans is encoded by the CFTR gene. The CFTR gene provides instructions for the CFTR protein, which functions as a channel across the membrane of cells producing mucus, sweat, saliva, tears, and digestive enzymes.
Etymology
The term CFTR is an acronym derived from the full name of the protein it represents, the Cystic Fibrosis Transmembrane Conductance Regulator. The name itself describes the protein's function and its association with the disease cystic fibrosis.
Function
The CFTR protein is a channel protein that controls the flow of negatively charged particles, including chloride ions, across cell membranes. This flow of ions helps control the movement of water in tissues, which is necessary for the production of thin, freely flowing mucus.
Related Terms
- Cystic Fibrosis: A genetic disorder that affects mostly the lungs, but also the pancreas, liver, kidneys, and intestine.
- Chloride Channel: A type of ion channel that allows chloride ions to pass through the membrane.
- Ion Channel: A protein that allows ions to pass through the membrane in which it is embedded.
- Cell Membrane: The semipermeable membrane surrounding the cytoplasm of a cell.
Pathology
Mutations in the CFTR gene cause cystic fibrosis. Most of these mutations change single protein building blocks (amino acids) in the CFTR protein or delete a small amount of DNA from the CFTR gene. The most common mutation, called DeltaF508, deletes three DNA base pairs in the gene and results in the loss of a phenylalanine at position 508 in the protein.
See Also
External links
- Medical encyclopedia article on CFTR
- Wikipedia's article - CFTR
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