Brazilian journal of medical and biological research = Revista brasileira de pesquisas médicas e biológicas
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Braz. J. Med. Biol. Res. · Aug 1999
ReviewStructure and function of the cystic fibrosis transmembrane conductance regulator.
Cystic fibrosis (CF) is a lethal autosomal recessive genetic disease caused by mutations in the CF transmembrane conductance regulator (CFTR). Mutations in the CFTR gene may result in a defective processing of its protein and alter the function and regulation of this channel. ⋯ The CFTR contains two membrane domains, each with six transmembrane domain segments, two nucleotide-binding domains (NBDs), and a cytoplasmic domain. In this review we discuss the studies that have correlated the role of each CFTR domain in the protein function as a chloride channel and as a regulator of the outwardly rectifying Cl- channels (ORCCs).