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Article

Interallelic complementation of beta-subunit defects in fibroblasts of patients with propionyl-CoA carboxylase deficiency microinjected with mutant cDNA constructs.

Human molecular genetics - 1 Jun 1995

Loyer M, Leclerc D, Gravel R A

Abstract excerpt

Propionic acidemia results from deficiency of propionyl-CoA carboxylase (PCC) activity. PCC is a biotin-dependent, mitochondrial enzyme composed of alpha- and beta-subunits (structure, alpha 4 beta 4), with the alpha-subunit containing the biotin ligand. About two-thirds of fibroblast lines from patients with mutations in the PCCB (beta-subunit) gene show interallelic complementation in cell fusion experiments...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 7655456
DOI: 10.1093/hmg/4.6.1035

Genes

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.

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Interallelic complementation of beta-subunit defects in fibroblasts of patients with propionyl-CoA carboxylase deficiency microinjected with mutant cDNA constructs.PMID 7655456Read ↗

Mutations participating in interallelic complementation in propionic acidemia.Semantic proximity Read ↗

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

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

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

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

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

An unusual insertion/deletion in the gene encoding the beta-subunit of propionyl-CoA carboxylase is a frequent mutation in Caucasian propionic acidemia.Semantic proximity Read ↗

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