CFTR(CF transmembrane conductase regulator=cAMP dependent chloride channel pump)
Chapter: 15
The protein consists of two transmembrane domains, two nucleotide-binding domains and a regulatory domain, containing protein kinase A and C phosphorylation sites. Among 200 mutations of CF gene, 70% is a deletion of three nucleotide coding phenylalanine at amino acid position 508(DF 508), which represents clinically severe CF. Other mutaions represent less severe CF. The D F 508 mutation results in defective processing of CFTR protein, which does not become fully glucosylated and is degraded before it reaches the cell surface. The heterozygous carries of DF 508 have one half of normal CFTR and do not present clinical symptoms.