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The most common mutation (seen in approx. 70% of cystic fibrosis patients) that causes the disease is known as Delta F508. It affects the functions of a gene found in chromosome 7 called Cystic Fibrosis Transmembrane Regulator (CFTR) by displacing it from its normal location on the chromosome. This prevents it from making a protein (which has the same name as the gene) responsible for ion channels used by Cl ions as well as Na ions. The former facilitates osmosis (diffusion of water). It also is known as an ATP-binding cassette transporter protein, which are able to span the biological membrane to transport a variety of materials, such as products of metabolism.

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