OXCT1

OXCT1
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesOXCT1, OXCT, SCOT, 3-oxoacid CoA-transferase 1
External IDsOMIM: 601424; MGI: 1914291; HomoloGene: 377; GeneCards: OXCT1; OMA:OXCT1 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_000436

NM_024188

RefSeq (protein)

NP_077150

Location (UCSC)Chr 5: 41.73 – 41.87 MbChr 15: 4.06 – 4.18 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

3-oxoacid CoA-transferase 1 (OXCT1) is an enzyme that in humans is encoded by the OXCT1 gene.[5][6] It is also known as succinyl-CoA-3-oxaloacid CoA transferase (SCOT). Mutations in the OXCT1 gene are associated with succinyl-CoA:3-oxoacid CoA transferase deficiency.[7] 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 (CoA) from succinyl-CoA to acetoacetate.[6]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000083720Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000022186Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ Kassovska-Bratinova S, Fukao T, Song XQ, Duncan AM, Chen HS, Robert MF, Pérez-Cerdá C, Ugarte M, Chartrand C, Vobecky S, Kondo N, Mitchell GA (September 1996). "Succinyl CoA: 3-oxoacid CoA transferase (SCOT): human cDNA cloning, human chromosomal mapping to 5p13, and mutation detection in a SCOT-deficient patient". American Journal of Human Genetics. 59 (3): 519–28. PMC 1914926. PMID 8751852.
  6. ^ a b "Entrez Gene: OXCT1 3-oxoacid CoA transferase 1".
  7. ^ Fukao T, Mitchell G, Sass JO, Hori T, Orii K, Aoyama Y (July 2014). "Ketone body metabolism and its defects". Journal of Inherited Metabolic Disease. 37 (4): 541–51. doi:10.1007/s10545-014-9704-9. PMID 24706027. S2CID 21840932.