What is cystic fibrosis? Among the known mutations, Dr. 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. Introduction. It is one of the most common life limiting genetic condition in the Western world. A person with cystic fibrosis inherits one CF gene from each parent. In people who have CF, the gene makes a protein that doesn't work well. The result is thick, sticky mucus in the respiratory, digestive and reproductive systems, as … CF occurs because of mutations in the gene that makes a protein called CFTR (cystic fibrosis transmembrane regulator). Cystic fibrosis is a genetic condition caused by mutations in the cystic fibrosis transmembrane conductance regulator gene (CFTR).Loss or altered function of the product of this gene, the CFTR protein, affects the transport of ions across cell membranes in several tissues in the body which in turn, through mechanisms which are still not fully understood, results in the disease. The CFTR gene provides instructions for making a channel that transports negatively charged particles called chloride ions into and out of cells. Mutations in the CFTR gene cause cystic fibrosis. CFTR stands for Cystic Fibrosis Transmembrane Conductance Regulator. This damage often results from a buildup of thick, sticky mucus in the organs. Cystic fibrosis (also known as CF or mucoviscidosis) is an autosomal recessive genetic disorder affecting most critically the lungs, and also the pancreas, liver, and intestine. A record of the known mutations can be found in the Cystic Fibrosis Mutation Database. This ion protein channel controls the movement of sodium, chloride, and water in and out of the cell. Cystic fibrosis (CF) is caused by mutations in the CFTR gene. Cystic fibrosis is a genetic disorder caused by inheriting a pair of genes that are mutated or not working properly. Since the discovery of the CFTR gene twenty-five years ago, nearly 2,000 mutations have been identified within the gene. Cystic fibrosis is a rare, life-shortening genetic disease caused by mutations of the cystic fibrosis transmembrane conductance regulator – or CFTR – gene.There are around 2000 identified mutations in the gene, 127 of which are currently known to cause CF. A defect in the CFTR gene causes cystic fibrosis (CF). In the study, the researchers were surprised to discover that not only TMEM16A but also the cystic fibrosis transmembrane conductor regulator (CFTR) gene is not functional in patients with CF. In cystic fibrosis, a defect (mutation) in a gene — the cystic fibrosis transmembrane conductance regulator (CFTR) gene — changes a protein that regulates the movement of salt in and out of cells.