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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 deficiency of PCC due to mutations in either the PCCA or the PCCB gene results in propionic acidemia (PA), a clinically...

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Source

Identifiers

PMID: 9385377
DOI: 10.1007/s004390050593

Genes

PCCA
PCCB

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Three novel splice mutations in the PCCA gene causing identical exon skipping in propionic acidemia patients.PMID 9385377Read ↗

Propionic acidemia: identification of twenty-four novel mutations in Europe and North America.Semantic proximity Read ↗

The molecular defect in propionic acidemia: exon skipping caused by an 8-bp deletion from an intron in the PCCB allele.Semantic proximity Read ↗

Structure of the PCCA gene and distribution of mutations causing propionic acidemia.Semantic proximity Read ↗

New splicing mutations in propionic acidemia.Semantic proximity Read ↗

Human propionyl-CoA carboxylase beta subunit gene: exon-intron definition and mutation spectrum in Spanish and Latin American propionic acidemia patients.Semantic proximity Read ↗

Overview of mutations in the PCCA and PCCB genes causing propionic acidemia.Semantic proximity Read ↗

Coding sequence mutations in the alpha subunit of propionyl-CoA carboxylase in patients with propionic acidemia.Semantic proximity Read ↗

Combinations of exonic deletions and rare mutations lead to misdiagnosis of propionic acidemia.Semantic proximity Read ↗

Two distinct mutations at the same site in the PCCB gene in propionic acidemia.Semantic proximity Read ↗

Functional characterization of PCCA mutations causing propionic acidemia.Semantic proximity Read ↗

A novel splicing mutation in propionic acidemia associated with a tetranucleotide direct repeat in the PCCB gene.Semantic proximity Read ↗

Propionic acidemia: mutation update and functional and structural effects of the variant alleles.Semantic proximity Read ↗

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