OXCT1 (NM 000436) Human Recombinant Protein – TP303764

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OXCT1 (NM 000436) Human Recombinant Protein – TP303764

OriGene Technologies, Inc. 9620 Medical Center Drive, Ste 200 Rockville, MD 20850, US Phone: +1-888-267-4436 [email protected] EU: [email protected] CN: [email protected] Product datasheet for TP303764 OXCT1 (NM_000436) Human Recombinant Protein Product data: Product Type: Recombinant Proteins Description: Recombinant protein of human 3-oxoacid CoA transferase 1 (OXCT1), nuclear gene encoding mitochondrial protein Species: Human Expression Host: HEK293T Tag: C-Myc/DDK Predicted MW: 52 kDa Concentration: >50 ug/mL as determined by microplate BCA method Purity: > 80% as determined by SDS-PAGE and Coomassie blue staining Buffer: 25 mM Tris.HCl, pH 7.3, 100 mM glycine, 10% glycerol Preparation: Recombinant protein was captured through anti-DDK affinity column followed by conventional chromatography steps. Storage: Store at -80°C. Stability: Stable for 12 months from the date of receipt of the product under proper storage and handling conditions. Avoid repeated freeze-thaw cycles. RefSeq: NP_000427 Locus ID: 5019 UniProt ID: P55809, A0A024R040 RefSeq Size: 3572 Cytogenetics: 5p13.1 RefSeq ORF: 1560 Synonyms: OXCT; SCOT Summary: This gene encodes a member of the 3-oxoacid CoA-transferase gene family. The encoded protein is a homodimeric mitochondrial matrix enzyme that plays a central role in extrahepatic ketone body catabolism by catalyzing the reversible transfer of coenzyme A from succinyl-CoA to acetoacetate. Mutations in this gene are associated with succinyl CoA:3- oxoacid CoA transferase deficiency. [provided by RefSeq, Jul 2008] This product is to be used for laboratory only. Not for diagnostic or therapeutic use. View online » ©2021 OriGene Technologies, Inc., 9620 Medical Center Drive, Ste 200, Rockville, MD 20850, US 1 / 2 OXCT1 (NM_000436) Human Recombinant Protein – TP303764 Protein Pathways: Butanoate metabolism, Synthesis and degradation of ketone bodies, Valine, leucine and isoleucine degradation Product images: Coomassie blue staining of purified OXCT1 protein (Cat# TP303764). The protein was produced from HEK293T cells transfected with OXCT1 cDNA clone (Cat# [RC203764]) using MegaTran 2.0 (Cat# [TT210002]). This product is to be used for laboratory only. Not for diagnostic or therapeutic use. ©2021 OriGene Technologies, Inc., 9620 Medical Center Drive, Ste 200, Rockville, MD 20850, US 2 / 2.

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A Turkish Patient with Succinyl-Coa:3-Oxoacid Coa
Original Article Journal of Inborn Errors of Metabolism & Screening 2016, Volume 4: 1–5 A Turkish Patient With ª The Author(s) 2016 DOI: 10.1177/2326409816651281 Succinyl-CoA:3-Oxoacid CoA iem.sagepub.com Transferase Deficiency Mimicking Diabetic Ketoacidosis Sahin Erdol, MD1, Mehmet Ture, MD2, Tahsin Yakut, PhD2, Halil Saglam, PhD1, Hideo Sasai, MD3, Elsayed Abdelkreem, MD3, Hiroki Otsuka, MD3, and Toshiyuki Fukao, MD, PhD3 Abstract Succinyl-CoA:3-oxoacid CoA transferase (SCOT) deficiency is an autosomal recessive disorder of ketone body utilization that is clinically characterized with intermittent ketoacidosis crises. We report here the second Turkish case with SCOT deficiency. She experienced 3 ketoacidotic episodes: The first ketoacidotic crisis mimicked diabetic ketoacidosis because of the associated hyperglycemia. Among patients with SCOT deficiency, the blood glucose levels at the first crises were variable, and this case had the highest ever reported blood glucose level. She is a compound heterozygote with 2 novel mutations, c.517A>G (K173E) and c.1543A>G (M515V), in exons 5 and 17 of the OXCT1 gene, respectively. In patient’s fibroblasts, SCOT activity was deficient and, by immunoblot analysis, SCOT protein was much reduced. The patient attained normal development and had no permanent ketosis. The accurate diagnosis of SCOT deficiency in this case had a vital impact on the management strategy and outcome. Keywords succinyl-CoA:3-oxoacid CoA transferase, deficiency, mimicking, diabetic ketoacidosis, Turkey Introduction deficiency. We herein describe a Turkish SCOT-deficient patient whose first episode mimicked diabetic ketoacidosis Succinyl-CoA:3-oxoacid CoA transferase (SCOT) deficiency because of the associated hyperglycemia.
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Novel Compound Heterozygous OXCT1 Mutations Causing Succinyl-Coa:3-Ketoacid Coa Transferase Deficiency
Case Report Yonsei Med J 2019 Mar;60(3):308-311 https://doi.org/10.3349/ymj.2019.60.3.308 pISSN: 0513-5796 · eISSN: 1976-2437 A Rare Cause of Life-Threatening Ketoacidosis: Novel Compound Heterozygous OXCT1 Mutations Causing Succinyl-CoA:3-Ketoacid CoA Transferase Deficiency Young A Kim1,2, Seong Heon Kim1, Chong Kun Cheon1, and Yoo-Mi Kim3 1Department of Pediatrics, Pusan National University Children’s Hospital, Yangsan; 2Research Institute for Convergence of Biomedical Science and Technology, Pusan National University Yangsan Hospital, Yangsan; 3Department of Pediatrics, Chungnam National University Hospital, College of Medicine, Chungnam National University, Daejeon, Korea. Succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency is a rare inborn error of ketone body utilization, characterized by ep- isodic or permanent ketosis. SCOT deficiency is caused by mutations in the OXCT1 gene, which is mapped to 5p13 and consists of 17 exons. A 12-month-old girl presented with severe ketoacidosis and was treated with continuous renal replacement therapy. She had two previously unrecognized mild-form episodes of ketoacidosis followed by febrile illness. While high levels of ketone bodies were found in her blood and urine, other laboratory investigations, including serum glucose, were unremarkable. We identified novel compound heterozygous mutations in OXCT1:c.1118T>G (p.Ile373Ser) and a large deletion ranging from exon 8 to 16 through targeted exome sequencing and microarray analysis. This is the first Korean case of SCOT deficiency caused by novel mutations in OXCT1, resulting in life-threatening ketoacidosis. In patients with unexplained episodic ketosis, or high anion gap metabolic acidosis in infancy, an inherited disorder in ketone body metabolism should be suspected.
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DATASHEET USA: [email protected]
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Anti-OXCT1 Antibody (ARG58973)
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Succinyl-Coa:3-Ketoacid Coa Transferase Deficiency
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Primepcr™Assay Validation Report
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