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Article

Structure of the PCCA gene and distribution of mutations causing propionic acidemia.

Molecular genetics and metabolism - 1 Jan 2000

Campeau E, Desviat L R, Leclerc D, Wu X, Pérez B, Ugarte M, Gravel R A

Abstract excerpt

Propionyl-CoA carboxylase (PCC, EC 6.4.1.3) is a mitochondrial, biotin-dependent enzyme that functions in the catabolism of branched-chain amino acids, fatty acids with odd-numbered chain lengths, and other metabolites. It catalyzes the ATP-dependent carboxylation of propionyl-CoA to d-methylmalonyl-CoA. PCC is composed of two types of subunits, likely as alpha4beta4 or alpha6beta6, with the alpha subunit...

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Source

Identifiers

PMID: 11592820
DOI: 10.1006/mgme.2001.3210

Genes

PCCA
PCCB

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Structure of the PCCA gene and distribution of mutations causing propionic acidemia.PMID 11592820Read ↗

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

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

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

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Identification and characterization of the largest deletion in the PCCA gene causing severe acute early-onset form of propionic acidemia.Semantic proximity Read ↗

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