Protein-coding gene in the species Homo sapiens
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]
^ a b c GRCh38: Ensembl release 89: ENSG00000083720 – Ensembl , May 2017
^ a b c GRCm38: Ensembl release 89: ENSMUSG00000022186 – Ensembl , May 2017
^ "Human PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .
^ "Mouse PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .
^ 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 .
^ a b "Entrez Gene: OXCT1 3-oxoacid CoA transferase 1" .
^ 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 .