Propionyl Coenzyme A Carboxylase Alpha (PCCa)

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

SPN	T092
HGNC	8653
MGI	97499
PubMed	12385775
UniProt	P05165

PCCa is the alpha subunit of the heterodimeric mitochondrial enzyme Propionyl-CoA carboxylase. PCCA encodes the biotin-binding region of this enzyme. Mutations in either PCCA or PCCB (encoding the beta subunit) lead to an enzyme deficiency resulting in propionic acidemia. Two transcript variants encoding different isoforms have been found for this gene.

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.

Reference

"Structure of the PCCA gene and distribution of mutations causing propionic acidemia."
Mol. Genet. Metab. 74:238-247(2001) [PubMed] [Europe PMC] [Abstract]

"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]

"The DNA sequence and analysis of human chromosome 13."
Nature 428:522-528(2004) [PubMed] [Europe PMC] [Abstract]

"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]

"Human mitochondrial propionyl-CoA carboxylase: localization of the N-terminus of the pro- and mature alpha chains in the deduced primary sequence of a full-length cDNA."
Nucleic Acids Res. 17:4396-4396(1989) [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]

"Cloning of functional alpha propionyl CoA carboxylase and correction of enzyme deficiency in pccA fibroblasts."
Am. J. Hum. Genet. 52:144-151(1993) [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]

"Sequence homology around the biotin-binding site of human propionyl-CoA carboxylase and pyruvate carboxylase."
Arch. Biochem. Biophys. 254:631-636(1987) [PubMed] [Europe PMC] [Abstract]

"Initial characterization of the human central proteome."
BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]

"An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome."
J. Proteomics 96:253-262(2014) [PubMed] [Europe PMC] [Abstract]

"Solution structure of B domain from human propionyl-CoA carboxylase alpha subunit."
Submitted (NOV-2005) to the PDB data bank

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

"Genetic heterogeneity in propionic acidemia patients with alpha-subunit defects: identification of five novel mutations, one of them causing instability of the protein."
Biochim. Biophys. Acta 1453:351-358(1999) [PubMed] [Europe PMC] [Abstract]

"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]

"Coding sequence mutations in the alpha subunit of propionyl-CoA carboxylase in patients with propionic acidemia."
Mol. Genet. Metab. 67:11-22(1999) [PubMed] [Europe PMC] [Abstract]