BDH1

Chr 3

3-hydroxybutyrate dehydrogenase 1

Also known as: BDH, SDR9C1

NCBI Gene: 622 ENSG00000161267 UniProt: Q02338

The encoded protein is a mitochondrial membrane enzyme that catalyzes the interconversion of acetoacetate and (R)-3-hydroxybutyrate, the two major ketone bodies produced during fatty acid catabolism. Mutations cause 3-hydroxybutyric aciduria, an autosomal recessive metabolic disorder affecting ketone body metabolism. This gene is highly constrained against loss-of-function variants, indicating intolerance to protein-disrupting mutations.

ResearchSummary from RefSeq

This gene encodes a member of the short-chain dehydrogenase/reductase gene family. The encoded protein forms a homotetrameric lipid-requiring enzyme of the mitochondrial membrane and has a specific requirement for phosphatidylcholine for optimal enzymatic activity. The encoded protein catalyzes the interconversion of acetoacetate and (R)-3-hydroxybutyrate, the two major ketone bodies produced during fatty acid catabolism. Alternatively spliced transcript variants encoding the same protein have been described. [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

1.39

LOEUF

Mechanism· predicted

Some data sources returned errors (1)

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