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 Ketone body metabolism and FOXA2 and FOXA3 transcription factor networks. Gene Ontology (GO) annotations related to this gene include oxidoreductase activity and 3-hydroxybutyrate dehydrogenase activity. An important paralog of this gene is HSD17B6.