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 reticulate acropigmentation of kitamura. Among its related pathways are Metabolism and Valine, leucine and isoleucine degradation. 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.