BDH1
Description
The BDH1 (3-hydroxybutyrate dehydrogenase 1) is a protein-coding gene located on chromosome 3.
The BDH1 gene encodes D-beta-hydroxybutyrate dehydrogenase, a mitochondrial enzyme belonging to the short-chain dehydrogenase/reductase gene family. This enzyme forms a homotetrameric structure, requiring lipids, specifically phosphatidylcholine, for optimal activity. It plays a crucial role in the metabolic pathway of fatty acid catabolism by catalyzing the reversible conversion of acetoacetate and (R)-3-hydroxybutyrate, the major ketone bodies produced during this process. The gene exhibits alternative splicing, resulting in different transcripts encoding the same protein.
The BDH1 gene encodes a mitochondrial enzyme, D-beta-hydroxybutyrate dehydrogenase, which is responsible for interconverting acetoacetate and (R)-3-hydroxybutyrate. These two molecules are the primary ketone bodies produced during fatty acid breakdown. This enzyme is essential for energy production, particularly during periods of low glucose availability.
BDH1 is also known as BDH, SDR9C1.
