Article
Ornithine delta-aminotransferase mutations in gyrate atrophy. Allelic heterogeneity and functional consequences.
The Journal of biological chemistry - 15 Feb 1992
Brody L C, Mitchell G A, Obie C, Michaud J, Steel G, Fontaine G, Robert M F, Sipila I, Kaiser-Kupfer M, Valle D
Abstract excerpt
Ornithine delta-aminotransferase is a nuclear-encoded mitochondrial matrix enzyme which catalyzes the reversible interconversion of ornithine and alpha-ketoglutarate to glutamate semialdehyde and glutamate. Inherited deficiency of ornithine delta-aminotransferase results in ornithine accumulation...
Topics
- Alleles
- Amino Acid Sequence
- Animals
- Base Sequence
- CHO Cells
- Cell Line
- Cricetinae
- Gyrate Atrophy
- Humans
- Molecular Sequence Data
- Mutation
- Ornithine-Oxo-Acid Transaminase
- Polymerase Chain Reaction
- Polymorphism, Genetic
- Protein Conformation