Gene: PCCA

Alternate names for this Gene: -

Gene Summary: The protein encoded by this gene 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. Multiple transcript variants encoding different isoforms have been found for this gene.

Gene is located in Chromosome: 13

Location in Chromosome : 13q32.3

Description of this Gene: propionyl-CoA carboxylase subunit alpha

Type of Gene: protein-coding

rs2184971 in PCCA gene and Abnormality of refraction PMID 23396134 2013 Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia.

rs118169528 in PCCA gene and Propionic acidemia PMID 27227689 2016 Seventeen Novel Mutations in PCCA and PCCB Genes in Indian Propionic Acidemia Patients, and Their Outcomes.

PMID 24464666 2014 Clinical characteristics and mutation analysis of propionic acidemia in Thailand.

PMID 15059621 2004 Mutation spectrum of the PCCA and PCCB genes in Japanese patients with propionic acidemia.

PMID 12559849 2003 Propionic acidemia: identification of twenty-four novel mutations in Europe and North America.

PMID 10101253 1999 Genetic heterogeneity in propionic acidemia patients with alpha-subunit defects. Identification of five novel mutations, one of them causing instability of the protein.

PMID 10329019 1999 Coding sequence mutations in the alpha subunit of propionyl-CoA carboxylase in patients with propionic acidemia.

PMID 22033733 2012 Mutation analysis in 54 propionic acidemia patients.

PMID 22334403 2012 Feasibility of nonsense mutation readthrough as a novel therapeutical approach in propionic acidemia.

PMID 26740382 2016 Recapitulation of metabolic defects in a model of propionic acidemia using patient-derived primary hepatocytes.

PMID 20725044 2010 Crystal structure of the alpha(6)beta(6) holoenzyme of propionyl-coenzyme A carboxylase.

PMID 20549364 2010 The molecular landscape of propionic acidemia and methylmalonic aciduria in Latin America.

PMID 24863100 2014 Two frequent mutations associated with the classic form of propionic acidemia in Taiwan.

PMID 12385775 2002 Functional characterization of PCCA mutations causing propionic acidemia.

PMID 10780784 2000 Potential relationship between genotype and clinical outcome in propionic acidaemia patients.

PMID 17051315 2006 New splicing mutations in propionic acidemia.

PMID 21094621 2011 Overexpression of adapted U1snRNA in patients' cells to correct a 5' splice site mutation in propionic acidemia.

PMID 11592820 2001 Structure of the PCCA gene and distribution of mutations causing propionic acidemia.

PMID 8083196 1994 Sequence requirements for the biotinylation of carboxyl-terminal fragments of human propionyl-CoA carboxylase alpha subunit expressed in Escherichia coli.

PMID 23053474 2013 Functional characterization of novel genotypes and cellular oxidative stress studies in propionic acidemia.

PMID 27825584 2016 Autism in patients with propionic acidemia.

PMID 30159853 2018 Fibroblast growth factor 21 as a biomarker for long-term complications in organic acidemias.

PMID 15464417 2005 Propionic acidemia: mutation update and functional and structural effects of the variant alleles.

PMID 18414145 2008 N-carbamylglutamate markedly enhances ureagenesis in N-acetylglutamate deficiency and propionic acidemia as measured by isotopic incorporation and blood biomarkers.

PMID 29033250 2017 Propionyl-CoA carboxylase - A review.

PMID 28712602 2017 Anaplerotic therapy in propionic acidemia.

PMID 27900673 2017 Expansion of the Phenotypic Spectrum of Propionic Acidemia with Isolated Elevated Propionylcarnitine.

PMID 19099776 2008 [Gene mutation analysis in patients with propionic acidemia].

PMID 15235904 2004 Qualitative and quantitative analysis of the effect of splicing mutations in propionic acidemia underlying non-severe phenotypes.

PMID 27489777 2016 Clinical experience with N-carbamylglutamate in a single-centre cohort of patients with propionic and methylmalonic aciduria.

PMID 9887338 1999 Detection of a normally rare transcript in propionic acidemia patients with mRNA destabilizing mutations in the PCCA gene.

PMID 22156789 2012 Propionic acidemia associated with visual hallucinations.

PMID 25047749 2015 Biochemical and molecular characteristics of patients with organic acidaemias and urea cycle disorders identified through newborn screening.

PMID 19157943 2009 High frequency of large genomic deletions in the PCCA gene causing propionic acidemia.

rs2184971 in PCCA gene and Refractive Errors PMID 23396134 2013 Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia.

rs3783177 in PCCA gene and Smoking PMID 30643258 2019 Genome-wide association analyses of risk tolerance and risky behaviors in over 1 million individuals identify hundreds of loci and shared genetic influences.

rs9557386 in PCCA gene and mathematical ability PMID 30038396 2018 Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals.