ArticleAmerican journal of human genetics1996
Succinyl CoA: 3-oxoacid CoA transferase (SCOT): human cDNA cloning, human chromosomal mapping to 5p13, and mutation detection in a SCOT-deficient patient.
Article in American journal of human genetics, 1996. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
What it found
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Who cites it
19 citing papers in PubMed, 59 citations in OpenAlex.
- The value of targeting ketone body metabolism in inflammatory and autoimmune diseases.Journal of translational medicine · 2026Review
- Sequence variants associating with urinary biomarkers.Human molecular genetics · 2019Article
- A Rare Cause of Life-Threatening Ketoacidosis: Novel Compound HeterozygousYonsei medical journal · 2019Article
- A Case of Succinyl-CoA:3-Oxoacid CoA Transferase Deficiency Presenting with Severe Acidosis in a 14-Month-Old Female: Evidence for Pathogenicity of a Point Mutation in theJournal of pediatric intensive care · 2018Article
- Heterozygous carriers of succinyl-CoA:3-oxoacid CoA transferase deficiency can develop severe ketoacidosis.Journal of inherited metabolic disease · 2017Article
- Multi-dimensional Roles of Ketone Bodies in Fuel Metabolism, Signaling, and Therapeutics.Cell metabolism · 2017Review
- Ketone body metabolism and its defects.Journal of inherited metabolic disease · 2014Review
- Article
- A structural mapping of mutations causing succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency.Journal of inherited metabolic disease · 2013Article
- Impact of peripheral ketolytic deficiency on hepatic ketogenesis and gluconeogenesis during the transition to birth.The Journal of biological chemistry · 2013Article
- Ketone body metabolism and cardiovascular disease.American journal of physiology. Heart and circulatory physiology · 2013Review
- Successful adaptation to ketosis by mice with tissue-specific deficiency of ketone body oxidation.American journal of physiology. Endocrinology and metabolism · 2013Article
- Inborn errors of ketogenesis and ketone body utilization.Journal of inherited metabolic disease · 2012Review
- Obligate role for ketone body oxidation in neonatal metabolic homeostasis.The Journal of biological chemistry · 2011Article
- A neonatal-onset succinyl-CoA:3-ketoacid CoA transferase (SCOT)-deficient patient with T435N and c.658-666dupAACGTGATT p.N220_I222dup mutations in the OXCT1 gene.Journal of inherited metabolic disease · 2010Article
- Neonatal hypoglycaemia in severe succinyl-CoA: 3-oxoacid CoA-transferase deficiency.Journal of inherited metabolic disease · 2001Article
- Nitration of succinyl-CoA:3-oxoacid CoA-transferase in rats after endotoxin administration.Proceedings of the National Academy of Sciences of the United States of America · 2001Article
- Characterization of the protocatechuic acid catabolic gene cluster from Streptomyces sp. strain 2065.Applied and environmental microbiology · 2000Article
- 1996 William Allan Award Address. Algorithms and inferences: the challenge of multifactorial diseases.American journal of human genetics · 1997Article
Corrections and comments
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Authors and funding
12 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Succinyl CoA: 3-oxoacid CoA transferase (SCOT; E.C.2.8.3.5) mediates the rate-determining step of ketolysis in extrahepatic tissues, the esterification of acetoacetate to CoA for use in energy production. Hereditary SCOT deficiency in humans causes episodes of severe ketoacidosis. We obtained human-heart SCOT cDNA clones spanning the entire 1,560-nt coding sequence. Sequence alignment of the human SCOT peptides with other known CoA transferases revealed several conserved regions of potential functional importance. A single approximately 3.2-kb SCOT mRNA is present in human tissues (heart > leukocytes >> fibroblasts), but no signal is detectable in the human hepatoma cell line HepG2. We mapped the human SCOT locus (OXCT) to the cytogenetic band 5p13 by in situ hybridization. From fibroblasts of a patient with hereditary SCOT deficiency, we amplified and cloned cDNA fragments containing the entire SCOT coding sequence. We found a homozygous C-to-G transversion at nt 848, which changes the Ser 283 codon to a stop codon. This mutation (S283X) is incompatible with normal enzyme function and represents the first documentation of a pathogenic mutation in SCOT deficiency.
Indexed as
Identifiers
8751852PMC1914926W1562396900What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.