1. Gene
  2. BDH1 - 3-hydroxybutyrate dehydrogenase 1 Gene

BDH1 - 3-hydroxybutyrate dehydrogenase 1 Gene

Homo sapiens

Also known as BDH; SDR9C1

Gene ID: 622 | Gene type: protein coding

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
Gene Ontology
  • Molecular Function
Molecular Function GO Annotation Evidence Reference 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%

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