OXCT1
Function
Key enzyme for ketone body catabolism. Catalyzes the first, rate-limiting step of ketone body utilization in extrahepatic tissues, by transferring coenzyme A (CoA) from a donor thiolester species (succinyl-CoA) to an acceptor carboxylate (acetoacetate), and produces acetoacetyl-CoA. Acetoacetyl-CoA is further metabolized by acetoacetyl-CoA thiolase into two acetyl-CoA molecules which enter the citric acid cycle for energy production (PubMed:10964512). Forms a dimeric enzyme where both of the subunits are able to form enzyme-CoA thiolester intermediates, but only one subunit is competent to transfer the CoA moiety to the acceptor carboxylate (3-oxo acid) and produce a new acyl-CoA. Formation of the enzyme-CoA intermediate proceeds via an unstable anhydride species formed between the carboxylate groups of the enzyme and substrate (By similarity).
Involvement in disease
Succinyl-CoA:3-oxoacid CoA transferase deficiency
SCOTD
A disorder of ketone body metabolism, characterized by episodic ketoacidosis. Patients are usually asymptomatic between episodes.
None
The disease is caused by variants affecting the gene represented in this entry.
Pathway
Ketone metabolism; succinyl-CoA degradation; acetoacetyl-CoA from succinyl-CoA: step 1/1.
Sequence Similarities
Belongs to the 3-oxoacid CoA-transferase family.
Tissue Specificity
Abundant in heart, followed in order by brain, kidney, skeletal muscle, and lung, whereas in liver it is undetectable. Expressed (at protein level) in all tissues (except in liver), most abundant in myocardium, then brain, kidney, adrenal glands, skeletal muscle and lung; also detectable in leukocytes and fibroblasts.
Cellular localization
- Mitochondrion
Alternative names
OXCT, SCOT, OXCT1, 3-oxoacid CoA-transferase 1, Somatic-type succinyl-CoA:3-oxoacid CoA-transferase, Succinyl-CoA:3-oxoacid CoA transferase, SCOT-s