Aliases for BDH1 Gene
External Ids for BDH1 Gene
Previous HGNC Symbols for BDH1 Gene
Previous GeneCards Identifiers for BDH1 Gene
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]
GeneCards Summary for BDH1 Gene
BDH1 (3-Hydroxybutyrate Dehydrogenase 1) is a Protein Coding gene. Diseases associated with BDH1 include 3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency and Chromosome 3Q29 Duplication Syndrome. Among its related pathways are Metabolism and Ketone body metabolism. Gene Ontology (GO) annotations related to this gene include oxidoreductase activity and 3-hydroxybutyrate dehydrogenase activity. An important paralog of this gene is HSD17B6.