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Propionyl CoA carboxylase, alpha polypeptide

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.[provided by RefSeq, May 2010] (from NCBI)
Top mentioned proteins: ACID, CAN, OUT, ODD, HAD
Papers on PCCA
Recapitulation of metabolic defects in a model of propionic acidemia using patient-derived primary hepatocytes.
Dash et al., Washington, D.C., United States. In Mol Genet Metab, Jan 2016
BACKGROUND: Propionic acidemia (PA) is a disorder of intermediary metabolism with defects in the alpha or beta subunits of propionyl CoA carboxylase (PCCA and PCCB respectively) enzyme.
Long-term sex-biased correction of circulating propionic acidemia disease markers by adeno-associated virus vectors.
Barry et al., Rochester, United States. In Hum Gene Ther, Mar 2015
Propionic academia (PA) occurs because of mutations in the PCCA or PCCB genes encoding the two subunits of propionyl-CoA carboxylase, a pivotal enzyme in the breakdown of certain amino acids and odd-chain fatty acids.
[Analysis of PCCA and PCCB gene mutations in patients with propionic acidemia].
Li et al., Dongguan, China. In Zhonghua Yi Xue Yi Chuan Xue Za Zhi, Feb 2015
OBJECTIVE: To analyze PCCA and PCCB gene mutations in 10 Chinese patients with propionic acidemia(PA).
Two frequent mutations associated with the classic form of propionic acidemia in Taiwan.
Liu et al., Taipei, Taiwan. In Biochem Genet, 2014
PCC consists of two subunits, α and β, encoded by the PCCA and PCCB genes, respectively.
Pulse sequences for uniform perfluorocarbon droplet vaporization and ultrasound imaging.
Dayton et al., Chapel Hill, United States. In Ultrasonics, 2014
The development and evaluation of protocols for PCCA-enhanced ultrasound imaging using a commercial array transducer are described.
Effects of adeno-associated virus serotype and tissue-specific expression on circulating biomarkers of propionic acidemia.
Barry et al., Rochester, United States. In Hum Gene Ther, 2014
This enzyme is composed of six PCCA and six PCCB subunits and mediates a critical step in catabolism of odd chain fatty acids and certain amino acids.
Synthesis, pharmacological characterization, and structure-activity relationship studies of small molecular agonists for the orphan GPR88 receptor.
Zhang et al., United States. In Acs Chem Neurosci, 2014
In this paper, we report the synthesis of a GPR88 agonist 2-PCCA and its pure diastereomers, which were functionally characterized in both transiently and stably expressing GPR88 HEK293 cells.
Cerebellar hypoplasia in mice lacking selenoprotein biosynthesis in neurons.
Schweizer et al., Berlin, Germany. In Biol Trace Elem Res, 2014
A neurodevelopmental syndrome called progressive cerebello-cortical atrophy (PCCA) is caused by mutations in the selenocysteine synthase gene, SEPSECS, demonstrating that selenoproteins are essential for human brain development.
VPS53 mutations cause progressive cerebello-cerebral atrophy type 2 (PCCA2).
Birk et al., Beersheba, Israel. In J Med Genet, 2014
BACKGROUND: Progressive cerebello-cerebral atrophy (PCCA) leading to profound mental retardation, progressive microcephaly, spasticity and early onset epilepsy, was diagnosed in four non-consanguineous apparently unrelated families of Jewish Moroccan ancestry.
Clinical characteristics and mutation analysis of propionic acidemia in Thailand.
Wasant et al., Bangkok, Thailand. In World J Pediatr, 2014
The diagnosis of PA is confirmed by detection of mutations in the PCCA or PCCB genes.
Quantitative comparison of alternative methods for coarse-graining biological networks.
Huang et al., Berkeley, United States. In J Chem Phys, 2013
Surprisingly, the original Perron cluster cluster analysis (PCCA) method often provides the next best results, outperforming the newer PCCA+ method and the most probable paths algorithm.
Generation of a hypomorphic model of propionic acidemia amenable to gene therapy testing.
Barry et al., Rochester, United States. In Mol Ther, 2013
Deletion of the Pcca gene in mice mimics the most severe forms of the human disease.
Propionic acidemia associated with visual hallucinations.
Al-Owain et al., Jiddah, Saudi Arabia. In J Child Neurol, 2012
Thsi study presented that Propionic acidemia(PCCA mutation) associated with visual hallucinations
Propionic Acidemia
Venditti et al., Seattle, United States. In Unknown Journal, 2012
Confirmation of the diagnosis relies on detection of either deficient PCC enzymatic activity or biallelic pathogenic variants in PCCA or PCCB.
Crystal structure of the alpha(6)beta(6) holoenzyme of propionyl-coenzyme A carboxylase.
Tong et al., New York City, United States. In Nature, 2010
cryo-electron microscopy (cryo-EM) reconstruction at 15-A resolution
Evidence for catabolic pathway of propionate metabolism in CNS: expression pattern of methylmalonyl-CoA mutase and propionyl-CoA carboxylase alpha-subunit in developing and adult rat brain.
Braissant et al., Lausanne, Switzerland. In Neuroscience, 2010
Methylmalonyl-CoA mutase and PCCA show a much higher expression level in the entire CNS than in the liver, suggesting a different, but important function of this pathway during brain development.
Decreased levels of metabolic enzymes in pancreatic islets of patients with type 2 diabetes.
Ostenson et al., Madison, United States. In Diabetologia, 2009
Activities of propionyl-CoA carboxylase were not significantly different in pancreatic islets of patients with type 2 diabetes from those of the control.
High frequency of large genomic deletions in the PCCA gene causing propionic acidemia.
Ugarte et al., Madrid, Spain. In Mol Genet Metab, 2009
This work describes for the first time the high frequency of large genomic deletions in the PCCA gene, which could be due to the characteristics of the PCCA gene structure and its abundance in intronic repetitive elements.
Propionic acidemia: mutation update and functional and structural effects of the variant alleles.
Ugarte et al., Madrid, Spain. In Mol Genet Metab, 2004
Mutations in the PCCA or PCCB genes, encoding both subunits of propionyl-CoA carboxylase, result in propionic acidemia, a life-threatening inborn error of metabolism with autosomal recessive inheritance.
Overview of mutations in the PCCA and PCCB genes causing propionic acidemia.
Gravel et al., Madrid, Spain. In Hum Mutat, 1998
The enzyme is composed of alpha and beta subunits which are encoded by the PCCA and PCCB genes, respectively.
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