3-Hydroxybutyrate Dehydrogenase 1

Alternative Names

  • BDH1
  • 3-Hydroxybutyrate Dehydrogenase
  • BDH
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OMIM Number

603063

NCBI Gene ID

622

Uniprot ID

Q02338

Length

63,561 bases

No. of Exons

16

No. of isoforms

1

Protein Name

D-beta-hydroxybutyrate dehydrogenase, mitochondrial

Molecular Mass

38157 Da

Amino Acid Count

343

Genomic Location

chr3:197,509,783-197,573,343

Gene Map Locus
3q29

Description

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. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_203314.3:c.668G>ASyriaNC_000003.12:g.197512259C>TLikely PathogenicNM_203314.3:c.668G>A; NP_976059.1:p.Arg223His1178948970
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