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Medical Definition of Cystic fibrosis transmembrane conductance regulator
1. Gene believed to be defective in cystic fibrosis. Gene encodes a chloride channel, homologous to a family of proteins that actively transport small solutes in an ATP dependent manner (ABC transporters). The regulator protein is a protein which is embedded in the cell membrane and acts as a channel for certain ions to be transported into or out of the cell. The disease cystic fibrosis is caused by a defect in the gene for this protein. (09 Oct 1997)