Human CFTR Knockout Cell Line-HEK293T

The cystic fibrosis transmembrane conductance regulator (CFTR) is a membrane protein and anion channel found in vertebrates and encoded by the CFTR gene. The CFTR gene belongs to the ATP-binding cassette (ABC) transporter family and encodes a protein that regulates the movement of chloride and bicarbonate ions across epithelial cell membranes. This regulation is essential for maintaining fluid balance in various organs such as the lungs and pancreas. The role of CFTR is not limited to the transport of chloride and bicarbonate ions. It is also involved in regulating other ion channels, affecting acid-base balance, and participating in cellular defense mechanisms. The gene is highly expressed in various tissues, including the respiratory tract, digestive system, and reproductive organs. Its complex structure with two transmembrane domains, two nucleotide binding domains, and a regulatory domain gives it a complex function that requires phosphorylation and ATP binding for activation.

Mutations in the CFTR gene disrupt its ion channel function, resulting in improper chloride and bicarbonate ion transport. Since its discovery, more than 700 CFTR mutations have been found, each resulting in a different expression and severity of the disease. The most common mutation, Delta F508, causes the CFTR protein to misfold and degrade before it reaches the cell membrane. As a result, the absence of a functional CFTR channel leads to the formation of thick mucus in organs such as the lungs and pancreas, which can cause recurrent lung infections, pancreatic insufficiency, malnutrition, and diabetes. Male patients may also be born with bilateral absence of the vas deferens, resulting in infertility.