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, Type 1) is a Protein Coding gene. Diseases associated with BDH1 include Chromosome 3Q29 Microduplication Syndrome. Among its related pathways are Butanoate metabolism and Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha). GO annotations related to this gene include oxidoreductase activity and 3-hydroxybutyrate dehydrogenase activity. An important paralog of this gene is HSD11B2.