1.+What+exactly+is+CF?

=Cause= The gene that causes CF does so by producing a defective version of the protein, the cystic fibrosis transmembrane conductance regular gene (CFTR), located on chromosome seven. Even though there are at least 1,500 different mutations of this gene, 70% of people have the defect delta-F508. The delta-F508 mutation is the loss of one nucleotide letter in the CFTR gene. Because of this, the CFTR protein, phenylalanine, is made incorrectly and cannot perform its functions. The CFTR protein helps regulate the production of mucus within the body. Normal CFTR proteins allow for chloride ions and the water that follows to exit mucus-producing cells; this way, none of the mucus becomes too thick and can be easily moved throughout the body. However, protein produced by delta-F508 CFTR does not let chloride ions to exit mucus-producing cells. Because water does not move out of the cell unless chloride ions move too, the mucus becomes extremely thick and can clog up the body.



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