CFTR

About CFTR

CFTR Cystic Fibrosis Transmembrane Conductance Regulator on chromosome 7q31.2 encodes an ATP gated chloride and bicarbonate channel in epithelial cell membranes, a member of the ABC transporter family. Variants on both copies cause cystic fibrosis, the most common life limiting autosomal recessive disease in people of Northern European ancestry, affecting about 1 in 3,000 newborns in that population. The gene was identified in 1989. More than 2,000 variants have been described. F508del, the deletion of phenylalanine at position 508, accounts for about 70 percent of disease alleles and causes the protein to misfold and be degraded before reaching the cell surface. Variants are grouped into classes by mechanism, such as defective synthesis, folding, gating, or conductance. CF causes thick mucus in the lungs with chronic infection by Pseudomonas and Burkholderia, pancreatic insufficiency in most patients, absence of the vas deferens in males, salty sweat, and meconium ileus in newborns. Life expectancy has improved greatly since the 1950s. CFTR modulators, including the potentiator ivacaftor and the triple combination elexacaftor, tezacaftor, and ivacaftor, now benefit a large majority of people with CF.