Article
Impaired tetramer assembly of variant medium-chain acyl-coenzyme A dehydrogenase with a glutamate or aspartate substitution for lysine 304 causing instability of the protein.
The Journal of biological chemistry - 25 Dec 1992
Yokota I, Saijo T, Vockley J, Tanaka K
Abstract excerpt
Ninety percent of variant medium-chain acyl-CoA dehydrogenase (MCAD) alleles in patients with MCAD deficiency carry a 985 A-->G transition which causes glutamate substitution for lysine 329 in precursor (p) MCAD (K-304 in mature MCAD). We have used site-directed mutagenesis to produce three varia...
Topics
- Acyl-CoA Dehydrogenase
- Acyl-CoA Dehydrogenases
- Alleles
- Amino Acid Sequence
- Animals
- Aspartic Acid
- Base Sequence
- Chromatography, Gel
- Cloning, Molecular
- Codon
- Enzyme Stability
- Genetic Variation
- Glutamates
- Glutamic Acid
- Humans
- Kinetics
- Lysine
- Macromolecular Substances