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

BDH1 Protein Structure

adh_short

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

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS01452	BDH1 Human Pre-designed siRNA Set A		/	Unkown

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