Article
Overview of mutations in the PCCA and PCCB genes causing propionic acidemia.
Human mutation - 1 Jan 1999
Ugarte M, Pérez-Cerdá C, Rodríguez-Pombo P, Desviat L R, Pérez B, Richard E, Muro S, Campeau E, Ohura T, Gravel R A
Abstract excerpt
Propionic acidemia is an inborn error of metabolism caused by a deficiency of propionyl-CoA carboxylase, a heteropolymeric mitochondrial enzyme involved in the catabolism of branched chain amino acids, odd-numbered chain length fatty acids, cholesterol, and other metabolites. The enzyme is composed of alpha and beta subunits which are encoded by the PCCA and PCCB genes, respectively. Mutations in both genes can...
Topics
- Alternative Splicing
- Amino Acid Metabolism, Inborn Errors
- Carboxy-Lyases
- Frameshift Mutation
- Humans
- Macromolecular Substances
- Methylmalonyl-CoA Decarboxylase
- Mutation
- Mutation, Missense
- Polymorphism, Genetic
- Propionates
- Sequence Deletion