3-Hydroxybutyrate Dehydrogenase, Type 1 (BDH1), is an enzyme encoded by the BDH1 gene. This enzyme plays a crucial role in the metabolism of ketone bodies, which are produced during the breakdown of fatty acids. BDH1 is a member of the short-chain dehydrogenase/reductase (SDR) family and is primarily located in the mitochondrial membrane .
BDH1 forms a homotetrameric lipid-requiring enzyme that is embedded in the mitochondrial membrane . It has a specific requirement for phosphatidylcholine to achieve optimal enzymatic activity . The primary function of BDH1 is to catalyze the interconversion of acetoacetate and ®-3-hydroxybutyrate, the two major ketone bodies produced during fatty acid catabolism .
Mutations or dysregulation of the BDH1 gene can be associated with metabolic disorders. For instance, disorders of ketone body transport and chromosome 2Q31.1 duplication syndrome have been linked to BDH1 . The enzyme’s role in ketone body metabolism makes it a potential target for therapeutic interventions in metabolic diseases.
Recombinant BDH1 refers to the enzyme produced through recombinant DNA technology, which allows for the expression of the human BDH1 gene in various host systems. This recombinant form is used in research to study the enzyme’s function, structure, and potential therapeutic applications.