Article
Cystic fibrosis gene.
British medical bulletin - 1 Oct 1992
Harris A
Abstract excerpt
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...
Topics
- Chromosomes, Human, Pair 7
- Cystic Fibrosis
- Cystic Fibrosis Transmembrane Conductance Regulator
- Exons
- Genes
- Genotype
- Humans
- Membrane Proteins
- Mutation
- Phenotype