Three novel splice mutations in the PCCA gene causing identical exon skipping in propionic acidemia patients.

doi:10.1007/s004390050593

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Article

Three novel splice mutations in the PCCA gene causing identical exon skipping in propionic acidemia patients.

Human genetics - 1 Nov 1997

Richard E, Desviat L R, Pérez B, Pérez-Cerdá C, Ugarte M

Abstract excerpt

Propionyl-CoA carboxylase (PCC) is a mitochondrial, biotin-dependent enzyme involved in the catabolism of branched chain amino acids, odd chain fatty acids, and other metabolites. PCC consists of non-identical subunits, alpha and beta, encoded by the PCCA and PCCB genes, respectively. Inherited d...

Topics

Amino Acid Metabolism, Inborn Errors
Base Sequence
Carboxy-Lyases
DNA Primers
DNA, Complementary
Exons
Genotype
Humans
Methylmalonyl-CoA Decarboxylase
Mutation
Phenotype
Polymerase Chain Reaction
Propionates
RNA Splicing

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