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Article

Effect of PCCB gene mutations on the heteromeric and homomeric assembly of propionyl-CoA carboxylase.

Molecular genetics and metabolism - 1 Dec 2001

Muro S, Pérez B, Desviat L R, Rodríguez-Pombo P, Pérez-Cerdá C, Clavero S, Ugarte M

Abstract excerpt

Propionic acidemia is an inherited metabolic disorder caused by deficiency of propionyl-CoA carboxylase, a dodecameric enzyme composed of alpha-PCC and beta-PCC subunits (encoded by genes PCCA and PCCB) that have been associated with a number of mutations responsible for this disease. To clarify the molecular effect associated with gene alterations causing propionic acidemia, 12 different mutations affecting the...

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Source

Identifiers

PMID: 11749052
DOI: 10.1006/mgme.2001.3254

Genes

PCCB
PCCA

Variants

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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Effect of PCCB gene mutations on the heteromeric and homomeric assembly of propionyl-CoA carboxylase.PMID 11749052Read ↗

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

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

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Characterization of four variant forms of human propionyl-CoA carboxylase expressed in Escherichia coli.Semantic proximity Read ↗

Propionyl-CoA carboxylase - A review.Semantic proximity Read ↗

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

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

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