Mukowiscydoza
Cystic fibrosis

Summary/Abstract: The cystic fibrosis transmembrane conductance regulator (CFTR) is an ATP-binding cassette (ABC) transporter that functions as a cAMP-activated chloride channel. The ATP-binding cassette (ABC) transporters are a large group of transmembrane proteins that utilize the energy derived from ATP hydrolysis to transport various substrates across the membrane against the concentration gradient. The cystic fibrosis transmembrane conductance regulator (CFTR) differs from other members of this superfamily in that it functions as an epithelial cAMP-activated anion channel that allows for passive transport of chloride ions down their electrochemical gradient. Additionally, CFTR may regulate other epithelial ion channels or transporters, mediating the transmembrane Cl-, HCO3-, Na+, K+ and Ca2+ transport, thereby significantly contributing to the maintaining of the overall ion balance in the epithelia. Defective function of CFTR is responsible for several human diseases, including cystic fibrosis (CF), chronic pancreatitis, all associated with abnormal ion fluxes in epithelial tissues of different organs.

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