Gene Symbol: ACSF3
Description: acyl-CoA synthetase family member 3
Alias: acyl-CoA synthetase family member 3, mitochondrial, malonyl-CoA synthetase
- Malonyl-CoA synthetase, encoded by ACYL ACTIVATING ENZYME13, is essential for growth and development of ArabidopsisHui Chen
Institute of Biological Chemistry, Washington State University, Pullman, Washington 99164 6340
Plant Cell 23:2247-62. 2011..Our results demonstrate that the malonyl-CoA synthetase encoded by AAE13 is essential for healthy growth and development, probably because it is required for the detoxification of malonate...
- Added value of next generation gene panel analysis for patients with elevated methylmalonic acid and no clinical diagnosis following functional studies of vitamin B12 metabolismMihaela Pupavac
Department of Human Genetics, McGill University, Montreal, Quebec, Canada
Mol Genet Metab 117:363-8. 2016..Of the patients with pathogenic findings, five had mutations in ACSF3, two in SUCLG1 and one in TCN2...
- A New Approach for Fast Metabolic Diagnostics in CMAMMAMonique G M de Sain-van der Velden
Department of Medical Genetics, UMC Utrecht, 85090, 3508AB, Utrecht, The Netherlands
JIMD Rep 30:15-22. 2016..MA) is assumed to differentiate combined malonic and methylmalonic aciduria (CMAMMA), due to mutations in the ACSF3 gene, from other causes of methylmalonic aciduria (classic MMAemia)...
- A Common Polymorphism in HIBCH Influences Methylmalonic Acid Concentrations in Blood Independently of CobalaminAnne M Molloy
Department of Clinical Medicine, School of Medicine, Trinity College Dublin, The University of Dublin, Dublin 2, Ireland Electronic address
Am J Hum Genet 98:869-82. 2016..42 × 10(-89)) and acyl-CoA synthetase family member 3 (ACSF3, p = 3.48 × 10(-19)). These loci accounted for 12% of the variance in MMA concentration...
- Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypesEmma S Reid
1 Genetics and Genomics Medicine Programme, UCL Institute of Child Health, London, UK
Brain . 2016..and biochemical phenotypes of well-characterized (POMGNT1, TPP1) and recently identified disorders (PGAP2, ACSF3, SERAC1, AFG3L2, DPYS)...
- Dual role of ancient ubiquitous protein 1 (AUP1) in lipid droplet accumulation and endoplasmic reticulum (ER) protein quality controlElizabeth J Klemm
Whitehead Institute for Biomedical Research, Massachusetts Institute of Technology, Cambridge, Massachusetts 02142, USA
J Biol Chem 286:37602-14. 2011..These findings indicate a possible connection between ER protein quality control and lipid droplets...
- The CBFA2T3/ACSF3 locus is recurrently involved in IGH chromosomal translocation t(14;16)(q32;q24) in pediatric B-cell lymphoma with germinal center phenotypeItziar Salaverria
Institute of Human Genetics, University Hospital Schleswig Holstein Campus Kiel Christian Albrechts University, Kiel, Germany
Genes Chromosomes Cancer 51:338-43. 2012..3). Candidate oncogenes targeted through this translocation are CBFA2T3 and ACSF3, which could be activated on der(16) and der(14), respectively...
- Analysis of differentially expressed genes and microRNAs in alcoholic liver diseaseYing Liu
Department of Gastroenterology, Heilongjiang Province Hospital, Harbin, Heilongjiang 150036, PR China
Int J Mol Med 31:547-54. 2013..co-expression genetic networks, node genes modulating the network were Acyl-coenzyme A synthetase-3 (ACSF3), Frizzled-5 (FZD5), LOC727987 and C1orf222...
- Combined malonic and methylmalonic aciduria: exome sequencing reveals mutations in the ACSF3 gene in patients with a non-classic phenotypeAhmed Alfares
Department of Medical Genetics, Montreal Children s Hospital, McGill University, Montreal, Quebec, Canada
J Med Genet 48:602-5. 2011..Most patients have metabolic acidosis, developmental delay, seizures and cardiomyopathy. CMAMMA was also described in symptomatic patients with normal MCD activity, suggesting heterogeneity in this disorder...
- Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduriaJennifer L Sloan
Genetics and Molecular Biology Branch, National Human Genome Research Institute, US National Institutes of Health, Bethesda, Maryland, USA
Nat Genet 43:883-6. 2011..We identify mutations in ACSF3, encoding a putative methylmalonyl-CoA and malonyl-CoA synthetase as a cause of CMAMMA...
- Mammalian ACSF3 protein is a malonyl-CoA synthetase that supplies the chain extender units for mitochondrial fatty acid synthesisAndrzej Witkowski
Children s Hospital Oakland Research Institute, Oakland, California 94609, USA
J Biol Chem 286:33729-36. 2011..The human candidate protein ACSF3, which has a predicted N-terminal mitochondrial targeting sequence, was cloned, expressed, and characterized as a ..
- Evidence for 26 distinct acyl-coenzyme A synthetase genes in the human genomePaul A Watkins
Kennedy Krieger Institute, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA
J Lipid Res 48:2736-50. 2007..Knowing the full complement of ACS genes in the human genome will facilitate future studies to characterize their specific biological functions...
- Brain Uptake and Utilization of Fatty Acids and LipidsPaul Watkins; Fiscal Year: 2004..Mol. Neurosci., which has committed to publish the proceedings of the proposed meeting. ..
- XALD: Role of Very Long Chain Fatty Acyl-CoA SynthetasesPaul Watkins; Fiscal Year: 2006..Furthermore, they will facilitate elucidation of the role of enzymes belonging to the VLACS or BG families in XALD. [unreadable] [unreadable]..