BDH1 Gene: 3-Hydroxybutyrate Dehydrogenase 1
Key enzyme in ketone body metabolism and energy homeostasis
Gene Information Card
| Symbol | BDH1 |
|---|---|
| Full Name | 3-Hydroxybutyrate Dehydrogenase 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 3q29 |
| NCBI Gene ID | 622 ncbi.nlm.nih.gov/gene/622 |
| Ensembl ID | ENSG00000198668 |
| UniProt ID | Q02338 |
| OMIM ID | 602107 |
| HGNC ID | 1030 |
| Aliases | BDH, SDR9C1, MGC8889 |
Description
The BDH1 gene encodes 3-hydroxybutyrate dehydrogenase 1, a mitochondrial enzyme that catalyzes the interconversion of acetoacetate and (R)-3-hydroxybutyrate, the two main ketone bodies. This reaction is essential for ketone body utilization in extrahepatic tissues during fasting, starvation, or prolonged exercise. BDH1 is a member of the short-chain dehydrogenase/reductase (SDR) family and is highly expressed in tissues with high energy demands such as brain, heart, and kidney.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| 3-Hydroxybutyrate Dehydrogenase Deficiency | Loss-of-function mutations in BDH1 impair ketone body utilization, leading to metabolic acidosis and encephalopathy during catabolic stress. | PMID: 27549322 |
| Hyperketonemia | Reduced BDH1 activity may contribute to elevated ketone bodies in conditions like diabetic ketoacidosis. | PMID: 28467893 |
| Alzheimer's Disease | Altered BDH1 expression and ketone body metabolism have been implicated in neurodegenerative disorders. | PMID: 31577916 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | High |
| Heart | 10.8 | High |
| Kidney | 9.2 | High |
| Liver | 3.1 | Low |
| Skeletal Muscle | 6.7 | Medium |
| Adipose Tissue | 2.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 15.3 | High expression; used in neuronal metabolism studies |
| HEK293 (embryonic kidney) | 8.7 | Moderate expression |
| HepG2 (hepatocellular carcinoma) | 2.1 | Low expression |
| MCF7 (breast cancer) | 4.5 | Moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | Rare | Likely loss of function; start codon loss |
| c.214C>T (p.Arg72Trp) | Missense | <0.01% | Reduced enzyme activity |
| c.487G>A (p.Gly163Arg) | Missense | <0.01% | Impaired catalytic function |
| c.632T>C (p.Leu211Pro) | Missense | <0.01% | Structural instability |
Mutation functional classification
Loss of Function (LOF)
Missense mutations such as p.Arg72Trp and p.Gly163Arg reduce or abolish enzymatic activity, impairing ketone body oxidation.
Gain of Function (GOF)
No gain-of-function mutations have been reported for BDH1.
Dominant Negative (DN)
No dominant-negative effects have been described; BDH1 deficiency is typically recessive.
View complete mutation data：
Gene Ontology (GO)
| • 3-hydroxybutyrate dehydrogenase activity (GO:0003858) | • mitochondrion (GO:0005739) |
| • identical protein binding (GO:0042802) | • pyruvate biosynthetic process (GO:0042866) |
| • ketone body catabolic process (GO:0046951) | • cellular response to ketone body (GO:1903955) |
Pathways
• Ketone body metabolism (Reactome: R-HSA-77111)
• Synthesis and degradation of ketone bodies (KEGG: hsa00072)
• Metabolism (Reactome: R-HSA-1430728)
Protein Summary
BDH1 is a 343-amino acid mitochondrial enzyme that catalyzes the reversible NAD+/NADH-dependent oxidation of (R)-3-hydroxybutyrate to acetoacetate. It is a homodimer and requires phosphatidylcholine for activity. The enzyme is critical for ketone body utilization in peripheral tissues, particularly the brain during fasting. Defects in BDH1 cause 3-hydroxybutyrate dehydrogenase deficiency, a rare inborn error of metabolism presenting with ketoacidosis and neurological symptoms.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| BDH1 Knockout HEK293 Cell Line | EDJ-KQ232 | Human | 622 | Details Get a Quote |
| BDH1 Knockout A-549 Cell Line | EDJ-KQ26547 | Human | 622 | Details Get a Quote |
| BDH1 Knockout HCT 116 Cell Line | EDJ-KQ26548 | Human | 622 | Details Get a Quote |
| BDH1 Knockout HeLa Cell Line | EDJ-KQ26549 | Human | 622 | Details Get a Quote |
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