Article
Expression and kinetic characterization of methylmalonyl-CoA mutase from patients with the mut- phenotype: evidence for naturally occurring interallelic complementation.
Human molecular genetics - 1 Sept 1997
Janata J, Kogekar N, Fenton W A
Abstract excerpt
L-Methylmalonyl-CoA mutase (MUT) is an adenosylcobalamin (AdoCbl)-requiring mitochondrial matrix enzyme that catalyzes the isomerization of L-methylmalonyl-CoA to succinyl-CoA. Inherited defects in the gene encoding this enzyme result in the mut forms of methylmalonic acidemia. Expression of mature human MUT cDNA in Escherichia coli at a post-induction cultivation temperature of 12 degrees C, rather than 37...
Topics
- Cell Line
- Escherichia coli
- Gene Expression
- Genetic Complementation Test
- Genetic Vectors
- Humans
- Methylmalonyl-CoA Mutase
- Molecular Sequence Data
- Phenotype
- Point Mutation
- Polymerase Chain Reaction