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The cystic fibrosis gene, located at 7q31, spans about 230 kb of genomic DNA and contains 27 exons. The cDNA of 6.2kb would predict an 1480 amino acid protein, the cystic fibrosis transmembrane conductance regulator (CFTR). CFTR has a high degree of homology with members of the ABC-transporter super family. The predicted protein structure consists of two membrane-spanning domains, each of 6 sub-units, anchoring CFTR in the apical membrane of specialized epithelial cells, 2 nucleotide binding folds (NBF) and a regulatory (R) domain. Disease-associated mutations in the CF gene are mainly clustered in the nucleotide-binding folds. The most common mutation, occurring in 70% of CF genes in Northern Europe and North America, is the deletion of amino acid phenylalanine at position 508 in the first NBF (ie delta F508).

Type

Journal article

Journal

Br Med Bull

Publication Date

10/1992

Volume

48

Pages

738 - 753

Keywords

Chromosomes, Human, Pair 7, Cystic Fibrosis, Cystic Fibrosis Transmembrane Conductance Regulator, Exons, Genes, Genotype, Humans, Membrane Proteins, Mutation, Phenotype