BDH1

D-beta-hydroxybutyrate dehydrogenase, mitochondrial is an enzyme that in humans is encoded by the BDH1 gene.[5][6][7]

BDH1
Identifiers
AliasesBDH1, BDH, SDR9C1, 3-hydroxybutyrate dehydrogenase, type 1, 3-hydroxybutyrate dehydrogenase 1
External IDsOMIM: 603063 MGI: 1919161 HomoloGene: 20860 GeneCards: BDH1
Gene location (Human)
Chr.Chromosome 3 (human)[1]
Band3q29Start197,509,783 bp[1]
End197,573,323 bp[1]
RNA expression pattern
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez

622

71911

Ensembl

ENSG00000161267
ENSG00000275544

ENSMUSG00000046598

UniProt

Q02338

Q80XN0

RefSeq (mRNA)

NM_004051
NM_203314
NM_203315

NM_001122683
NM_175177

RefSeq (protein)

NP_004042
NP_976059
NP_976060

NP_001116155
NP_780386

Location (UCSC)Chr 3: 197.51 – 197.57 MbChr 16: 31.42 – 31.46 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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.[7]

See also

  • 3-hydroxybutyrate dehydrogenase

References

  1. ENSG00000275544 GRCh38: Ensembl release 89: ENSG00000161267, ENSG00000275544 - Ensembl, May 2017
  2. GRCm38: Ensembl release 89: ENSMUSG00000046598 - Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. Marks AR, McIntyre JO, Duncan TM, Erdjument-Bromage H, Tempst P, Fleischer S (Aug 1992). "Molecular cloning and characterization of (R)-3-hydroxybutyrate dehydrogenase from human heart". J Biol Chem. 267 (22): 15459–63. PMID 1639787.
  6. Persson B, Kallberg Y, Bray JE, Bruford E, Dellaporta SL, Favia AD, Duarte RG, Jornvall H, Kavanagh KL, Kedishvili N, Kisiela M, Maser E, Mindnich R, Orchard S, Penning TM, Thornton JM, Adamski J, Oppermann U (Feb 2009). "The SDR (short-chain dehydrogenase/reductase and related enzymes) nomenclature initiative". Chem Biol Interact. 178 (1–3): 94–8. doi:10.1016/j.cbi.2008.10.040. PMC 2896744. PMID 19027726.
  7. "Entrez Gene: BDH1 3-hydroxybutyrate dehydrogenase, type 1".

Further reading


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