Gene: PCCB

Alternate names for this Gene: -

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

Gene is located in Chromosome: 3

Location in Chromosome : 3q22.3

Description of this Gene: propionyl-CoA carboxylase subunit beta

Type of Gene: protein-coding

rs480330 in PCCB gene and Anxiety PMID 29942085 2018 Meta-analysis of genome-wide association studies for neuroticism in 449,484 individuals identifies novel genetic loci and pathways.

rs1711171 in PCCB gene and Bilirubin measurement PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.

rs35316359 in PCCB gene and Body Height PMID 28552196 2017 Whole-Genome Sequencing Coupled to Imputation Discovers Genetic Signals for Anthropometric Traits.

PMID 20881960 2010 Hundreds of variants clustered in genomic loci and biological pathways affect human height.

rs9843801 in PCCB gene and Duration of sleep PMID 30804565 2019 Genome-wide analysis of insomnia in 1,331,010 individuals identifies new risk loci and functional pathways.

rs548288 in PCCB gene and Fibrinogen assay PMID 28107422 2017 Comparison of HapMap and 1000 Genomes Reference Panels in a Large-Scale Genome-Wide Association Study.

rs9844666 in PCCB gene and Height PMID 21194676 2011 Meta-analysis of Dense Genecentric Association Studies Reveals Common and Uncommon Variants Associated with Height.

PMID 20881960 2010 Hundreds of variants clustered in genomic loci and biological pathways affect human height.

rs483465 in PCCB gene and High density lipoprotein measurement PMID 25961943 2015 The impact of low-frequency and rare variants on lipid levels.

rs111033542 in PCCB gene and Propionic acidemia PMID 15059621 2004 Mutation spectrum of the PCCA and PCCB genes in Japanese patients with propionic acidemia.

PMID 12189489 2002 Unexpectedly high prevalence of the mild form of propionic acidemia in Japan: presence of a common mutation and possible clinical implications.

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

PMID 10447268 1999 Identification of novel mutations in the PCCB gene in European propionic acidemia patients. Mutation in brief no. 253. Online.

PMID 12409268 2002 Molecular analysis of PCCB gene in Korean patients with propionic acidemia.

PMID 2154743 1990 An unusual insertion/deletion in the gene encoding the beta-subunit of propionyl-CoA carboxylase is a frequent mutation in Caucasian propionic acidemia.

PMID 15890657 2005 Characterization of four variant forms of human propionyl-CoA carboxylase expressed in Escherichia coli.

PMID 8411997 1993 Three independent mutations in the same exon of the PCCB gene: differences between Caucasian and Japanese propionic acidaemia.

PMID 8295402 1993 Propionic acidaemia: sequence analysis of mutant mRNAs from Japanese beta subunit-deficient patients.

PMID 11749052 2001 Effect of PCCB gene mutations on the heteromeric and homomeric assembly of propionyl-CoA carboxylase.

PMID 9683601 1998 Human propionyl-CoA carboxylase beta subunit gene: exon-intron definition and mutation spectrum in Spanish and Latin American propionic acidemia patients.

PMID 12007220 2002 Propionic acidemia: analysis of mutant propionyl-CoA carboxylase enzymes expressed in Escherichia coli.

PMID 8023851 1994 Mutations participating in interallelic complementation in propionic acidemia.

PMID 12757933 2003 Functional analysis of PCCB mutations causing propionic acidemia based on expression studies in deficient human skin fibroblasts.

PMID 22033733 2012 Mutation analysis in 54 propionic acidemia patients.

PMID 25087612 2014 Pathogenic variants for Mendelian and complex traits in exomes of 6,517 European and African Americans: implications for the return of incidental results.

PMID 15949719 2005 Towards a model to explain the intragenic complementation in the heteromultimeric protein propionyl-CoA carboxylase.

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

PMID 27243974 2016 Targeted Next Generation Sequencing in Patients with Inborn Errors of Metabolism.

PMID 17415538 2008 [Propionic acidemia and sensorineural hearing loss: is there a connection at the molecular genetics level?].

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

PMID 11136555 2000 Changes in the carboxyl terminus of the beta subunit of human propionyl-CoA carboxylase affect the oligomer assembly and catalysis: expression and characterization of seven patient-derived mutant forms of PCC in Escherichia coli.

PMID 27776753 2017 Comparison of Methods of Initial Ascertainment in 58 Cases of Propionic Acidemia Enrolled in the Inborn Errors of Metabolism Information System Reveals Significant Differences in Time to Evaluation and Symptoms at Presentation.

PMID 28649556 2016 Successful pregnancy and delivery in a woman with propionic acidemia from the Amish community.

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

PMID 12888983 2003 Genetic heritage of the Old Order Mennonites of southeastern Pennsylvania.

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

PMID 30274917 2018 Identification of 34 novel mutations in propionic acidemia: Functional characterization of missense variants and phenotype associations.

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

PMID 2249848 1990 Two distinct mutations at the same site in the PCCB gene in propionic acidemia.

PMID 23430860 2012 Short-term outcome of propionic aciduria treated at presentation with N-carbamylglutamate: a retrospective review of four patients.

PMID 9452096 1998 New frequent mutation in the PCCB gene in Spanish propionic acidemia patients.

PMID 25865301 2015 Propionic acidemia in the Arab World.

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

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

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

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

PMID 24059531 2013 Long-term neurological outcome of a cohort of 80 patients with classical organic acidurias.

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

PMID 27578510 2016 A Population-Based Genomic Study of Inherited Metabolic Diseases Detected Through Newborn Screening.

PMID 24916042 2014 Propionic acidemia in a previously healthy adolescent with acute onset of dilated cardiomyopathy.

PMID 19238581 2009 On routine metabolic screening, the patient was found to have urine organic acids suggestive of PA. Biochemical and genetic characterization confirmed a PCC deficiency with two novel mutations in PCCB: IVS7 + 2 T > G (c.763 + 2 T > G) and p.R410Q (c.1229 G > A).