Propionyl Coenzyme A Carboxylase Beta (PCCb)

Propanoyl-CoA:carbon dioxide ligase subunit beta; Propionyl-CoA carboxylase beta chain, mitochondrial

SPN	T091
HGNC	8654
MGI	1914154
PubMed	12409268
RGD	3265
UniProt	P05166

PCCb is a subunit of the propionyl-CoA carboxylase (PCC) enzyme, which is involved in the catabolism of propionyl-CoA. PCC is a mitochondrial enzyme that probably acts as a dodecamer of six alpha subunits and six beta subunits. This gene encodes the beta subunit of PCC. Defects in this gene are a cause of propionic acidemia type II (PA-2).Propionyl-CoA carboxylase catalyses the carboxylation reaction of propionyl CoA. The product of the reaction is (S)-methylmalonyl CoA. Propionyl CoA is the end product of metabolism of odd-chain fatty acids, and is also a metabolite of most methyl-branched fatty acids. It is also the main metabolite of valine, and together with acetyl-CoA, is a metabolite of isoleucine, as well as a methionine metabolite. Propionyl-CoA is thus of great importance as a glucose precursor.

Reference

"Correction of the metabolic defect in propionic acidemia fibroblasts by microinjection of a full-length cDNA or RNA transcript encoding the propionyl-CoA carboxylase beta subunit."
Genomics 19:500-505(1994) [PubMed] [Europe PMC] [Abstract]

"The molecular defect in propionic acidemia: exon skipping caused by an 8-bp deletion from an intron in the PCCB allele."
Hum. Genet. 92:397-402(1993) [PubMed] [Europe PMC] [Abstract]

"Human propionyl-CoA carboxylase beta subunit gene: exon-intron definition and mutation spectrum in Spanish and Latin American propionic acidemia patients."
Am. J. Hum. Genet. 63:360-369(1998) [PubMed] [Europe PMC] [Abstract]

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Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]

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Nature 440:1194-1198(2006) [PubMed] [Europe PMC] [Abstract]

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Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]

"Isolation of cDNA clones coding for the alpha and beta chains of human propionyl-CoA carboxylase: chromosomal assignments and DNA polymorphisms associated with PCCA and PCCB genes."
Proc. Natl. Acad. Sci. U.S.A. 83:4864-4868(1986) [PubMed] [Europe PMC] [Abstract]

"Mitochondrial targeting signals and mature peptides of 3-methylcrotonyl-CoA carboxylase."
Biochem. Biophys. Res. Commun. 334:939-946(2005) [PubMed] [Europe PMC] [Abstract]

"An unusual insertion/deletion in the gene encoding the beta-subunit of propionyl-CoA carboxylase is a frequent mutation in Caucasian propionic acidemia."
Proc. Natl. Acad. Sci. U.S.A. 87:1372-1376(1990) [PubMed] [Europe PMC] [Abstract]

"Initial characterization of the human central proteome."
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J. Proteomics 96:253-262(2014) [PubMed] [Europe PMC] [Abstract]

"Three independent mutations in the same exon of the PCCB gene: differences between Caucasian and Japanese propionic acidaemia."
J. Inherit. Metab. Dis. 16:353-360(1993) [PubMed] [Europe PMC] [Abstract]

"Identification of novel mutations in the PCCB gene in European propionic acidemia patients."
Hum. Mutat. 14:89-90(1999) [PubMed] [Europe PMC] [Abstract]

"Overview of mutations in the PCCA and PCCB genes causing propionic acidemia."
Hum. Mutat. 14:275-282(1999) [PubMed] [Europe PMC] [Abstract]

"Effect of PCCB gene mutations on the heteromeric and homomeric assembly of propionyl-CoA carboxylase."
Mol. Genet. Metab. 74:476-483(2001) [PubMed] [Europe PMC] [Abstract]

"Unexpectedly high prevalence of the mild form of propionic acidemia in Japan: presence of a common mutation and possible clinical implications."
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"Propionic acidemia: identification of twenty-four novel mutations in Europe and North America."
Mol. Genet. Metab. 78:59-67(2003) [PubMed] [Europe PMC] [Abstract]

"Mutation spectrum of the PCCA and PCCB genes in Japanese patients with propionic acidemia."
Mol. Genet. Metab. 81:335-342(2004) [PubMed] [Europe PMC] [Abstract]