BDH1 - 3-hydroxybutyrate dehydrogenase 1 Gene

Also Known as BDH; SDR9C1

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 622

About BDH1

Cytogenetic location: 3q29 Genomic coordinates (GRCh38): 3:197,509,783-197,573,343 (from NCBI)

This gene has 18 transcripts (splice variants), 1 gene allele, 187 orthologues and 25 paralogues. Broad expression in liver (RPKM 11.8), colon (RPKM 4.8) and 19 other tissues.

Summary

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]

BDH1 Products (3)

mRNA Protein Name
NM_004051.5 NP_004042.1 D-beta-hydroxybutyrate dehydrogenase, mitochondrial precursor
NM_203314.3 NP_976059.1 D-beta-hydroxybutyrate dehydrogenase, mitochondrial precursor
NM_203315.3 NP_976060.1 D-beta-hydroxybutyrate dehydrogenase, mitochondrial precursor
Molecular Function GO Annotation Evidence References Source
enables 3-hydroxybutyrate dehydrogenase activity IDA
IDA: Inferred from direct assay
8679568 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

BDH1 Protein Structure

adh_short

adh_short: short chain dehydrogenase (56 - 225)

  • 0
  • 100
  • 200
  • 300
  • 343 a.a.
Protein Preferred Names Protein Names

D-beta-hydroxybutyrate dehydrogenase, mitochondrial

  • (R)-3-hydroxybutyrate dehydrogenase

Recombinant BDH1 Proteins

Cat. No. Product Name Accession Purity
HY-P7658 BDH1 Protein, Human (His) Q02338 (M1-R343) ≥ 95%, as determined by reducing SDS-PAGE.

BDH1 Antibodies

Cat. No. Product Name Application Reactivity
HY-P84470 BDH1 Antibody (YA4167) WB, IHC-P, ELISA Human, Mouse
HY-P84470A BDH1 Antibody (YA4167)(PBS only) WB, IHC-P, ELISA Human, Mouse

Related Diseases

Diseases Alias
Chromosome 3q29 Duplication Syndrome
  • Chromosome 3q29 Microduplication Syndrome

  • Trisomy 3q29

  • Microduplication 3q29 Syndrome

  • 3q29 Microduplication

  • 3q29 Microduplication Syndrome

  • 3q29 Interstitial Microduplication

Spinocerebellar Ataxia, Autosomal Recessive 15
  • Autosomal Recessive Spinocerebellar Ataxia 15

  • SCAR15

  • Salih Ataxia

  • Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Rubcn Deficiency

  • Autosomal Recessive Spinocerebellar Ataxia Type 15

  • Spinocerebellar Ataxia, Autosomal Recessive, 15

  • Ataxia, Spinocerebellar, Autosomal Recessive, Type 15

Mitochondrial Pyruvate Carrier Deficiency
  • MPYCD

Alpha-Methylacetoacetic Aciduria
  • Beta-Ketothiolase Deficiency

  • 3-Ketothiolase Deficiency

  • 3-Oxothiolase Deficiency

  • Mitochondrial Acetoacetyl-Coa Thiolase Deficiency

  • Alpha-Methylacetoaceticaciduria

  • Mat Deficiency

  • T2 Deficiency

  • 2-Methyl-3-Hydroxybutyricacidemia

  • Beta Ketothiolase Deficiency

  • Pseudo-Zellweger Syndrome

  • 2-Methyl-3-Hydroxybutyric Acidemia

  • 3-Ktd Deficiency

  • Peroxisomal Thiolase Deficiency

  • 2-Methylacetoacetyl-Coenzyme A Thiolase Deficiency

  • 3-Alpha-Oxothiolase Deficiency

  • Methylacetoacetyl-Coenzyme A Thiolase Deficiency

  • Mitochondrial 2-Methylacetoacetyl-Coa Thiolase Deficiency - Potassium Stimulated

  • Β-Ketothiolase Deficiency

  • Alpha Methylacetoacetic Aciduria

  • Alpha-Methyl-Acetoacetyl-Coa Thiolase Deficiency

  • Mitochondrial Acetoacetyl-Coenzyme A Thiolase Deficiency

  • 3KTD

  • Aciduria, Alpha-Methylacetoacetic

  • Deficiency Of Acetyl-Coa Acetyltransferase

  • Deficiency Of Acetyl-Coa Acyltransferase

  • Hepatic Methionine Adenosyltransferase Deficiency

  • Bifunctional Peroxisomal Enzyme Deficiency

Apical Myocardial Infarction
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Felis catus BDH1 VGNC VGNC:60096
Canis familiaris BDH1 VGNC VGNC:38422
Rattus norvegicus BDH1 RGD RGD:620131
Macaca mulatta BDH1 VGNC VGNC:70042
Mus musculus BDH1 MGD MGI:1919161
Bos taurus BDH1 VGNC VGNC:26457
Others BDH1 NCBI