Cystic fibrosis is caused by mutations in the gene that produces the cystic fibrosis transmembrane conductance regulator (CFTR) protein. This protein is responsible for regulating the flow of salt and fluids in and out of the cells in different parts of the body.Click to see full answer. Besides, what protein is affected by cystic fibrosis? CFTR Also Know, why is cystic fibrosis so common in Ireland? In the lungs, this leads to frequent and severe infections. The faulty gene that causes cystic fibrosis is recessive. This means that you need two faulty genes (one from each parent) to inherit the disease. Around 1 in 19 people in Ireland are carriers of the cystic fibrosis gene. Subsequently, one may also ask, what is the mutation that causes cystic fibrosis? CF is caused by a mutation in the gene cystic fibrosis transmembrane conductance regulator (CFTR). The most common mutation, ΔF508, is a deletion (Δ signifying deletion) of three nucleotides that results in a loss of the amino acid phenylalanine (F) at the 508th position on the protein.What is the genotype of cystic fibrosis?Typically, the genotype in those patients consists of at least one very mild mutation uncharacteristic for CF patients. These are predominantly missense or splice variants, belonging to classes IV or V producing variable amounts of functional CFTR protein at the apical membrane.
