Aliases for OXCT1 Gene
External Ids for OXCT1 Gene
Previous HGNC Symbols for OXCT1 Gene
Previous GeneCards Identifiers for OXCT1 Gene
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]
GeneCards Summary for OXCT1 Gene
OXCT1 (3-Oxoacid CoA-Transferase 1) is a Protein Coding gene. Diseases associated with OXCT1 include Succinyl Coa:3-Oxoacid Coa Transferase Deficiency and Gastric Antral Vascular Ectasia. Among its related pathways are Butanoate metabolism and Metabolism. GO annotations related to this gene include protein homodimerization activity and CoA-transferase activity. An important paralog of this gene is OXCT2.
UniProtKB/Swiss-Prot for OXCT1 Gene
Key enzyme for ketone body catabolism. Transfers the CoA moiety from succinate to acetoacetate. Formation of the enzyme-CoA intermediate proceeds via an unstable anhydride species formed between the carboxylate groups of the enzyme and substrate.