Entrez gene ID | | 5019 |
Official gene symbol | | OXCT1 |
Full name | | 3-oxoacid CoA transferase 1 |
Aliases | | ,OXCT,SCOT, |
Gene 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] |
Location | | Chromosome: 5 Locus: 5p13.1 |
Gene position | | 41870791 - 41730167 Map Viewer |
Gene orientation | | minus |
Gene size | | 140625 bp |
Gene sequence |
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OMIM ID | | 601424 |