Article
A cluster of cystic fibrosis mutations in the first nucleotide-binding fold of the cystic fibrosis conductance regulator protein.
Nature - 26 Jul 1990
Cutting G R, Kasch L M, Rosenstein B J, Zielenski J, Tsui L C, Antonarakis S E, Kazazian H H
Abstract excerpt
The gene responsible for cystic fibrosis (CF) has recently been identified and is predicted to encode a protein of 1,480 amino acids called the CF transmembrane conductance regulator (CFTR). Several functional regions are thought to exist in the CFTR protein, including two areas for ATP-binding, termed nucleotide-binding folds (NBFs), a regulatory (R) region that has many possible sites for phosphorylation by...
Topics
- Adenosine Triphosphate
- Amino Acid Sequence
- Binding Sites
- Chromosome Mapping
- Cystic Fibrosis
- Cystic Fibrosis Transmembrane Conductance Regulator
- Exons
- Humans
- Membrane Proteins
- Molecular Sequence Data