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Article

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

American journal of human genetics - 1 Aug 1998

Rodríguez-Pombo P, Hoenicka J, Muro S, Pérez B, Pérez-Cerdá C, Richard E, Desviat L R, Ugarte M

Abstract excerpt

Propionyl-CoA carboxylase (PCC) is a mitochondrial biotin-dependent enzyme composed of an equal number of alpha and beta subunits. Mutations in the PCCA (alpha subunit) or PCCB (beta subunit) gene can cause the inherited metabolic disease propionic acidemia (PA), which can be life threatening in the neonatal period. Lack of data on the genomic structure of PCCB has been a significant impediment to full...

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Source

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Identifiers

PMID: 9683601
DOI: 10.1086/301970
PMCID: PMC1377311

Genes

PCCB
PCCA

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→

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Human propionyl-CoA carboxylase beta subunit gene: exon-intron definition and mutation spectrum in Spanish and Latin American propionic acidemia patients.PMID 9683601Read ↗

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

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

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

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

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

Propionic acidemia: analysis of mutant propionyl-CoA carboxylase enzymes expressed in Escherichia coli.Semantic proximity Read ↗

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

Mutation analysis in 54 propionic acidemia patients.Semantic proximity Read ↗

Seventeen Novel Mutations in PCCA and PCCB Genes in Indian Propionic Acidemia Patients, and Their Outcomes.Semantic proximity Read ↗

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

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

Changes in the carboxyl terminus of the beta subunit of human propionyl-CoA carboxylase affect the oligomer assembly and catalysis: expression and characterization of seven patient-derived mutant forms of PCC in Escherichia coli.Semantic proximity Read ↗

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