BDH1 - 3-hydroxybutyrate dehydrogenase 1 Gene
Also Known as BDH; SDR9C1
Species: Homo sapiens
About BDH1
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 |
BDH1 Protein Structure
adh_short: short chain dehydrogenase (56 - 225)
- 0
- 100
- 200
- 300
- 343 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
D-beta-hydroxybutyrate dehydrogenase, mitochondrial |
|
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 |
|
|
| Spinocerebellar Ataxia, Autosomal Recessive 15 |
|
|
| Mitochondrial Pyruvate Carrier Deficiency |
|
|
| Alpha-Methylacetoacetic Aciduria |
|
|
| Apical Myocardial Infarction |
|
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 |