Aliases for BDH1 Gene
Aliases for BDH1 Gene
External Ids for BDH1 Gene
- HGNC: 1027
- Entrez Gene: 622
- Ensembl: ENSG00000161267
- OMIM: 603063
- UniProtKB: Q02338
Previous HGNC Symbols for BDH1 Gene
- BDH
Previous GeneCards Identifiers for BDH1 Gene
- GC03M198727
- GC03M197236
- GC03M194539
- GC03M197510
- GC03M197512
- GC03M197516
- GC03M197519
- GC03M197521
- GC03M197523
- GC03M197526
Summaries for BDH1 Gene
-
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]
GeneCards Summary for BDH1 Gene
BDH1 (3-Hydroxybutyrate Dehydrogenase 1) is a Protein Coding gene. Diseases associated with BDH1 include 3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency and Chromosome 3Q29 Duplication Syndrome. Among its related pathways are Metabolism and Ketone body metabolism. Gene Ontology (GO) annotations related to this gene include oxidoreductase activity and 3-hydroxybutyrate dehydrogenase activity. An important paralog of this gene is HSD17B6.
Additional gene information for BDH1 Gene
- Monarch Initiative
- Search for BDH1 at DataMed
- Search for BDH1 at HumanCyc
No data available for CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for BDH1 Gene
Genomics for BDH1 Gene
GeneHancer (GH) Regulatory Elements for BDH1 Gene
Promoters and enhancers for BDH1 Gene
| GeneHancer (GH) Identifier | GH Type | GH Score |
GH Sources | Gene Association Score | Total Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites |
Gene Targets |
|---|---|---|---|---|---|---|---|---|---|---|
| GH03J197553 | Promoter/Enhancer | 2.1 | EPDnew Ensembl ENCODE dbSUPER | 663.5 | +18.2 | 18187 | 2.5 | HDGF PKNOX1 SIN3A ZNF2 ZBTB7B BRCA1 GLIS2 ZNF143 RUNX3 DEK | BDH1 WDR53 MELTF-AS1 GC03P197515 | |
| GH03J197572 | Promoter/Enhancer | 1.4 | EPDnew ENCODE | 667.1 | -0.9 | -917 | 3.4 | FOXA2 MLX ARID4B DMAP1 ZNF48 ETS1 YY1 SLC30A9 RXRA SP5 | BDH1 MIR922 RPL36P7 GC03P197515 | |
| GH03J197559 | Enhancer | 0.8 | ENCODE dbSUPER | 19.3 | +13.4 | 13440 | 0.8 | FOXA2 RXRA MAX RAD21 FOXA1 SP1 JUND HNF4G HNF4A SMAD4 | BDH1 NRROS GC03P197515 | |
| GH03J197598 | Enhancer | 1 | Ensembl ENCODE | 11.7 | -25.9 | -25918 | 1.2 | HDGF RB1 ARID4B KLF17 SIN3A ZNF2 ZNF48 RAD21 RFX5 GLIS2 | LOC220729 BDH1 RPL36P7 PIR46687 GC03P197515 | |
| GH03J197533 | Enhancer | 0.6 | ENCODE dbSUPER | 18.7 | +39.0 | 38968 | 1.7 | STAT3 CEBPB | BDH1 GC03P197515 |
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data dump
GeneHancers around BDH1 on UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the BDH1 gene promoter:
Regulatory Element Products
Genomic Locations for BDH1 Gene
Genomic Locations for BDH1 Gene
- chr3:197,509,783-197,573,323
- (GRCh38/hg38)
- Size:
- 63,541 bases
- Orientation:
- Minus strand
- chr3:197,236,654-197,300,194
- (GRCh37/hg19)
Genomic View for BDH1 Gene
Genes around BDH1 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 3q29 by Entrez Gene
- 3q29 by HGNC
- 3q29 by Ensembl
BDH1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for BDH1 Gene
Proteins for BDH1 Gene
-
Protein details for BDH1 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q02338-BDH_HUMAN
- Recommended name:
- D-beta-hydroxybutyrate dehydrogenase, mitochondrial
- Protein Accession:
- Q02338
- D3DXC0
- Q96ET1
- Q9BRZ4
Protein attributes for BDH1 Gene
- Size:
- 343 amino acids
- Molecular mass:
- 38157 Da
- Quaternary structure:
-
- Homotetramer.
- SequenceCaution:
-
- Sequence=AAA58352.1; Type=Frameshift; Positions=124, 134; Evidence={ECO:0000305};
Protein Expression for BDH1 Gene
Post-translational modifications for BDH1 Gene
Other Protein References for BDH1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
-
Custom Antibody ServicesOriGene Antibodies for BDH1
- Novus Biologicals Antibodies for BDH1
- Invitrogen Antibodies for BDH1
- GeneTex BDH1 Antibody for BDH1
-
Boster Bio Antibodies for BDH1
-
Santa Cruz Biotechnology (SCBT) Antibodies for BDH1
Protein Products
-
OriGene Purified Proteins for BDH1
- Search Origene for MassSpec and Protein Over-expression Lysates for BDH1
- Origene Custom Protein Services for BDH1
- ProSpec Recombinant Proteins for BDH1
- Search GeneTex for Proteins for BDH1
-
ProSci Proteins for BDH1
Assay Products
No data available for DME Specific Peptides for BDH1 Gene
Domains & Families for BDH1 Gene
Gene Families for BDH1 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Candidate cardiovascular disease genes
- Enzymes
- Predicted intracellular proteins
Protein Domains for BDH1 Gene
- InterPro:
- Blocks:
- ProtoNet:
Suggested Antigen Peptide Sequences for BDH1 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
Q02338UniProtKB/Swiss-Prot:
BDH_HUMAN :- Belongs to the short-chain dehydrogenases/reductases (SDR) family.
- Family:
-
- Belongs to the short-chain dehydrogenases/reductases (SDR) family.
Function for BDH1 Gene
Molecular function for BDH1 Gene
- UniProtKB/Swiss-Prot CatalyticActivity:
- (R)-3-hydroxybutanoate + NAD(+) = acetoacetate + NADH.
- UniProtKB/Swiss-Prot EnzymeRegulation:
- Requires phosphatidylcholine as an allosteric activator for enzymatic activity.
Enzyme Numbers (IUBMB) for BDH1 Gene
Phenotypes From GWAS Catalog for BDH1 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0003858 | 3-hydroxybutyrate dehydrogenase activity | TAS | -- |
| GO:0016491 | oxidoreductase activity | IEA | -- |
Phenotypes for BDH1 Gene
- GenomeRNAi human phenotypes for BDH1:
Animal Model Products
-
Taconic Biosciences Mouse Models for BDH1
- Cyagen custom Knockout/knockin (KOKI) mouse models for BDH1
-
CRISPR Products
-
OriGene CRISPR knockouts for BDH1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for BDH1
- genomics-online: gRNA clones - Search results for 140 available BDH1 gene related products
- Overview of 140 available BDH1 gene related products
- Applied Biological Materials CRISPR for BDH1
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for BDH1
- GenScript: Design CRISPR guide RNA sequences for BDH1
miRNA for BDH1 Gene
- miRTarBase miRNAs that target BDH1
-
- hsa-mir-574-5p (MIRT606957)
- hsa-mir-6867-5p (MIRT606958)
- hsa-mir-3650 (MIRT606959)
- hsa-mir-4455 (MIRT606960)
- hsa-mir-6747-5p (MIRT606961)
- hsa-mir-589-3p (MIRT606962)
- hsa-mir-6782-5p (MIRT606963)
- hsa-mir-4773 (MIRT606964)
- hsa-mir-4666a-5p (MIRT607728)
- hsa-mir-493-5p (MIRT607729)
- hsa-mir-3177-5p (MIRT607730)
- hsa-mir-4735-3p (MIRT662377)
- hsa-mir-18b-5p (MIRT662378)
- hsa-mir-18a-5p (MIRT662379)
- hsa-mir-3660 (MIRT741981)
- hsa-mir-4526 (MIRT745942)
- hsa-mir-298 (MIRT784397)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for BDH1
- Browse OriGene Inhibitory RNA Products For BDH1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for BDH1
- genomics-online: shRNA clones - Search results for 140 available BDH1 gene related products
- Overview of 140 available BDH1 gene related products
Clone Products
-
OriGene ORF clones in human for BDH1
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for BDH1
- VectorBuilder custom plasmid, inducible vectors for BDH1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for BDH1
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for BDH1
- Applied Biological Materials Clones for BDH1
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for BDH1
No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for BDH1 Gene
Localization for BDH1 Gene
Subcellular locations from UniProtKB/Swiss-Prot for BDH1 Gene
- Mitochondrion inner membrane. Mitochondrion matrix.
| Compartment | Confidence |
|---|---|
| mitochondrion | 5 |
| nucleus | 5 |
| cytosol | 2 |
| peroxisome | 1 |
- Mitochondria (4)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005654 | nucleoplasm | IDA | -- |
| GO:0005739 | mitochondrion | IDA,IEA | -- |
| GO:0005743 | mitochondrial inner membrane | IEA | -- |
| GO:0005759 | mitochondrial matrix | TAS | -- |
| GO:0016020 | membrane | IEA | -- |
Pathways & Interactions for BDH1 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Ketone body metabolism |
.01
|
.01
|
| 2 | Metabolism |
.37
|
|
| 3 | Butanoate metabolism | ||
| 4 | Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha) | ||
| 5 | FOXA2 and FOXA3 transcription factor networks | ||
Pathways by source for BDH1 Gene
4 BioSystems pathways for BDH1 Gene
6 Reactome pathways for BDH1 Gene
3 KEGG pathways for BDH1 Gene
Interacting Proteins for BDH1 Gene
GPS-Prot Interaction Network for BDH1
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0008152 | metabolic process | IEA | -- |
| GO:0046951 | ketone body biosynthetic process | TAS | -- |
| GO:0046952 | ketone body catabolic process | TAS | -- |
| GO:0055114 | oxidation-reduction process | IEA | -- |
No data available for SIGNOR curated interactions for BDH1 Gene
Drugs & Compounds for BDH1 Gene
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| (R)-3-Hydroxybutyric acid |
|
625-72-9 |
|
|||
| 3-Hydroxybutyric acid |
|
300-85-6 |
|
|||
| Hydrogen Ion |
|
|
||||
| PC(18:1(9Z)e/2:0) |
|
|
||||
| Phosphatidylcholines Group A |
|
68737-67-7 |
|
Transcripts for BDH1 Gene
mRNA/cDNA for BDH1 Gene
- (179) Selected AceView cDNA sequences:
- (14) REFSEQ mRNAs :
- (5) Additional mRNA sequences :
- (17) Ensembl transcripts including schematic representations, and UCSC links where relevant :
-
- ENST00000358186 3330 bps (uc003fxu.3)
- ENST00000392378 3455 bps (uc003fxs.4)
- ENST00000392379 3546 bps (uc003fxr.3)
- ENST00000431056 453 bps (uc062sev.1)
- ENST00000432819 955 bps (uc062set.1)
Unigene Clusters for BDH1 Gene
CRISPR Products
-
OriGene CRISPR knockouts for BDH1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for BDH1
- genomics-online: gRNA clones - Search results for 140 available BDH1 gene related products
- Overview of 140 available BDH1 gene related products
- Applied Biological Materials CRISPR for BDH1
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for BDH1
- GenScript: Design CRISPR guide RNA sequences for BDH1
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for BDH1
- Browse OriGene Inhibitory RNA Products For BDH1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for BDH1
- genomics-online: shRNA clones - Search results for 140 available BDH1 gene related products
- Overview of 140 available BDH1 gene related products
Clone Products
-
OriGene ORF clones in human for BDH1
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for BDH1
- VectorBuilder custom plasmid, inducible vectors for BDH1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for BDH1
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for BDH1
- Applied Biological Materials Clones for BDH1
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
| ExUns: | 1a | · | 1b | · | 1c | · | 1d | · | 1e | · | 1f | · | 1g | ^ | 2a | · | 2b | ^ | 3a | · | 3b | ^ | 4 | ^ | 5a | · | 5b | ^ | 6 | ^ | 7a | · | 7b | · | 7c | ^ | 8a | · | 8b | ^ | 9a | · | 9b | · | 9c | ^ | 10a | · | 10b | · | 10c |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||
| SP2: | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||
| SP3: | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||
| SP4: | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
| SP5: | - | - | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||
| SP6: | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||
| SP7: | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
| SP8: | |||||||||||||||||||||||||||||||||||||||||||||||||||
| SP9: | |||||||||||||||||||||||||||||||||||||||||||||||||||
| SP10: |
Expression for BDH1 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
mRNA differential expression in normal tissues according to GTEx for BDH1 Gene
This gene is overexpressed in Liver (x9.3).
This gene is overexpressed in Gallbladder (18.9), Liver (16.5), and Nasal epithelium (6.9).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for BDH1 Gene
- Elite partner
NURSA nuclear receptor signaling pathways regulating expression of BDH1 Gene:
BDH1SOURCE GeneReport for Unigene cluster for BDH1 Gene:
Hs.274539Evidence on tissue expression from TISSUES for BDH1 Gene
- Liver(4.6)
- Heart(4.4)
- Lung(4.2)
- Nervous system(2.9)
- Muscle(2)
Primer Products
-
OriGene qPCR primer pairs and template standards for BDH1
-
OriGene qPCR primer pairs for BDH1
- genomics-online: primer clones - Search results for 140 available BDH1 gene related products
- Overview of 140 available BDH1 gene related products
Gene Expression Assay Products
No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for BDH1 Gene
Orthologs for BDH1 Gene
This gene was present in the common ancestor of animals and fungi.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | BDH1 34 33 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | BDH1 34 33 |
|
OneToOne | |
| mouse (Mus musculus) |
Mammalia | Bdh1 16 34 33 |
|
||
| dog (Canis familiaris) |
Mammalia | BDH1 34 33 |
|
OneToOne | |
| rat (Rattus norvegicus) |
Mammalia | Bdh1 33 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | BDH1 34 |
|
OneToOne | |
| oppossum (Monodelphis domestica) |
Mammalia | BDH1 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | BDH1 34 33 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | -- 34 |
|
OneToMany | |
| -- 34 |
|
OneToMany | |||
| tropical clawed frog (Silurana tropicalis) |
Amphibia | bdh1 33 |
|
||
| Str.11989 33 |
|
||||
| zebrafish (Danio rerio) |
Actinopterygii | bdh1 34 33 |
|
OneToOne | |
| fruit fly (Drosophila melanogaster) |
Insecta | CG8888 34 |
|
OneToOne | |
| worm (Caenorhabditis elegans) |
Secernentea | F55E10.6 34 |
|
OneToMany | |
| dhs-16 34 |
|
OneToMany | |||
| baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | LYS2 34 |
|
OneToMany | |
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 34 |
|
OneToOne |
- Species where no ortholog for BDH1 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- alpha proteobacteria (Wolbachia pipientis)
- amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- barley (Hordeum vulgare)
- beta proteobacteria (Neisseria meningitidis)
- bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- common water flea (Daphnia pulex)
- corn (Zea mays)
- E. coli (Escherichia coli)
- filamentous fungi (Aspergillus nidulans)
- Firmicute bacteria (Streptococcus pneumoniae)
- fission yeast (Schizosaccharomyces pombe)
- green algae (Chlamydomonas reinhardtii)
- honey bee (Apis mellifera)
- K. lactis yeast (Kluyveromyces lactis)
- loblloly pine (Pinus taeda)
- malaria parasite (Plasmodium falciparum)
- medicago trunc (Medicago Truncatula)
- moss (Physcomitrella patens)
- orangutan (Pongo pygmaeus)
- pig (Sus scrofa)
- rainbow trout (Oncorhynchus mykiss)
- rice (Oryza sativa)
- rice blast fungus (Magnaporthe grisea)
- schistosome parasite (Schistosoma mansoni)
- sea anemone (Nematostella vectensis)
- sea urchin (Strongylocentrotus purpuratus)
- sorghum (Sorghum bicolor)
- soybean (Glycine max)
- stem rust fungus (Puccinia graminis)
- sugarcane (Saccharum officinarum)
- thale cress (Arabidopsis thaliana)
- tomato (Lycopersicon esculentum)
- toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- wheat (Triticum aestivum)
Evolution for BDH1 Gene
- ENSEMBL:
- Gene Tree for BDH1 (if available)
- TreeFam:
- Gene Tree for BDH1 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for BDH1: view image
Paralogs for BDH1 Gene
Paralogs for BDH1 Gene
(11) SIMAP similar genes for BDH1 Gene using alignment to 8 proteins:
- BDH_HUMAN
- C9JB83_HUMAN
- C9JEB9_HUMAN
- C9JM78_HUMAN
- C9JQ90_HUMAN
- C9K0G7_HUMAN
- E9PCG9_HUMAN
- H7C2W1_HUMAN
Variants for BDH1 Gene
| SNP ID | Clin | Chr 03 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs1000039835 | -- | 197,536,143(-) | T/C | genic_downstream_transcript_variant, genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant | |
| rs1000070049 | -- | 197,561,177(-) | C/A | genic_upstream_transcript_variant, intron_variant | |
| rs1000115054 | -- | 197,529,871(-) | T/C | genic_downstream_transcript_variant, genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant | |
| rs1000123170 | -- | 197,541,043(-) | T/A | genic_downstream_transcript_variant, genic_upstream_transcript_variant, intron_variant | |
| rs1000204530 | -- | 197,561,406(-) | C/T | genic_upstream_transcript_variant, intron_variant |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| dgv5038n100 | CNV | gain | 25217958 |
| dgv5040n100 | CNV | gain | 25217958 |
| dgv5041n100 | CNV | gain | 25217958 |
| dgv5042n100 | CNV | gain | 25217958 |
| dgv635n27 | CNV | gain | 19166990 |
| dgv8863n54 | CNV | gain | 21841781 |
| esv1013303 | CNV | deletion | 17803354 |
| esv1109840 | CNV | deletion | 17803354 |
| esv1436400 | CNV | deletion | 17803354 |
| esv1448451 | CNV | deletion | 17803354 |
| esv2759214 | CNV | gain+loss | 17122850 |
| esv29640 | CNV | loss | 19812545 |
| esv3599309 | CNV | gain | 21293372 |
| esv3599312 | CNV | gain | 21293372 |
| esv3599313 | CNV | gain | 21293372 |
| esv3599314 | CNV | gain | 21293372 |
| esv3893854 | CNV | loss | 25118596 |
| nsv1006202 | CNV | gain | 25217958 |
| nsv1007506 | CNV | loss | 25217958 |
| nsv10399 | CNV | gain | 18304495 |
| nsv1136801 | CNV | deletion | 24896259 |
| nsv428433 | CNV | gain+loss | 18775914 |
| nsv461136 | CNV | gain | 19166990 |
| nsv471149 | CNV | gain | 18288195 |
| nsv507146 | OTHER | sequence alteration | 20534489 |
| nsv508982 | CNV | insertion | 20534489 |
| nsv593116 | CNV | gain | 21841781 |
Residual Variation Intolerance Score:
54.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
1.82;
34.30% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for BDH1 Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for BDH1 Gene
Disorders for BDH1 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| 3-hydroxy-3-methylglutaryl-coa lyase deficiency |
|
|
| chromosome 3q29 duplication syndrome |
|
|
| chromosomal duplication syndrome |
|
|
| chromosome 3q29 deletion syndrome |
|
|
Search BDH1 in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for BDH1
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for UniProtKB/Swiss-Prot and Genatlas for BDH1 Gene
Publications for BDH1 Gene
- Molecular cloning and characterization of (R)-3-hydroxybutyrate dehydrogenase from human heart. (PMID: 1639787) Marks AR … Fleischer S (The Journal of biological chemistry 1992) 2 3 4 58
- Differential utilization of ketone bodies by neurons and glioma cell lines: a rationale for ketogenic diet as experimental glioma therapy. (PMID: 21791085) Maurer GD … Rieger J (BMC cancer 2011) 2 3 58
- Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 44 58
- The SDR (short-chain dehydrogenase/reductase and related enzymes) nomenclature initiative. (PMID: 19027726) Persson B … Oppermann U (Chemico-biological interactions 2009) 2 3 58
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Products for BDH1 Gene
- Browse R&D Systems for Antibodies
- Browse R&D Systems for Human Recombinant Proteins
- Browse R&D Systems for biochemical assays
- Browse Human Proteins and Enzymes
- Browse Primary Antibodies
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- Browse Proteome Profiler Antibody Arrays
- Browse Small Molecules
- Custom Antibody ServicesOriGene Antibodies for BDH1
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- Custom Assay Services
- OriGene Purified Proteins for BDH1
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- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
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- GenScript: Next-day shipping of latest version cDNA ORF clones for BDH1 in any vector
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- CloneReady with Over 120,000 Genes
- Gene Synthesis: Any Gene in Any Vector
- Vector-based siRNA and miRNA, Ready for Transfection
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- Novus Biologicals Antibodies for BDH1
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- Novus Biologicals
- Novus Biologicals Tissue Microarrays
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- Browse ELISA Kits
- ProSpec Recombinant Proteins for BDH1
- Taconic Biosciences Mouse Models for BDH1
- Find your next knockout model in the Taconic Knockout Repository
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- Humanized Mice
- VectorBuilder custom plasmid, inducible vectors for BDH1
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- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
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- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- antibodies-online: Search results for 73 available BDH1 Antibodies ranked by validation data
- Compare Top BDH1 Antibodies
- antibodies-online: Search results for 21 available BDH1 Elisa Kits ranked by validation data
- Compare Top BDH1 Elisa Kits
- antibodies-online: Search results for 14 available BDH1 Proteins ranked by validation data
- Compare Top BDH1 Proteins
- GeneTex BDH1 Antibody for BDH1
- Search GeneTex for Proteins for BDH1
- Santa Cruz Biotechnology (SCBT) Antibodies for BDH1
- Search Santa Cruz Biotechnology (SCBT) for BDH1 siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for BDH1
- Search for BDH1 Antibodies at ProSci
- Custom Antibody Services
- ProSci Proteins for BDH1
- Horizon Cell Lines for BDH1
- genomics-online: cdna clones - Search results for 140 available BDH1 gene related products
- Overview of 140 available BDH1 gene related products
- orf clones - Search results for 140 available BDH1 gene related products
- Overview of 140 available BDH1 gene related products
- genomics-online: gRNA clones - Search results for 140 available BDH1 gene related products
- Overview of 140 available BDH1 gene related products
- genomics-online: primer clones - Search results for 140 available BDH1 gene related products
- Overview of 140 available BDH1 gene related products
- genomics-online: shRNA clones - Search results for 140 available BDH1 gene related products
- Overview of 140 available BDH1 gene related products
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for BDH1
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- Boster Bio Antibodies for BDH1
- Browse Boster Bio ELISA Kits
Sources for BDH1 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
- (40) DGV
- (41) dbSNP
- (42) GenAtlas
- (43) HGMD
- (44) GAD
- (45) BGMUT
- (46) HuGE
- (47) Atlas
- (48) Cell Signaling Technology
- (49) GenBank
- (50) H-invDB
- (51) HORDE
- (52) HUGE
- (53) IMGT
- (54) Leiden
- (55) miRBase
- (56) DME
- (57) OriGene
- (58) PubMed
- (59) R&D Systems
- (60) TGDB
- (61) Tocris
- (62) Abcam
- (63) Novus Biologicals
- (64) ProSpec
- (65) Sino Biological
- (66) GenScript
- (67) Qiagen
- (68) Cloud-Clone Corp.
- (69) OCA
- (70) Proteopedia
- (71) MOPED
- (72) neXtProt
- (73) Reactome
- (74) GeneGo (Thomson Reuters)
- (75) fRNAdb
- (76) DISEASES
- (77) SIMAP
- (78) GenomeRNAi
- (79) LifeMap
- (80) miRTarBase
- (81) MalaCards
- (82) Invitrogen
- (83) BitterDB
- (84) Vector BioLabs
- (85) ESI-BIO
- (86) RefSeq
- (87) BioSystems
- (88) MaxQB
- (89) IUPHAR
- (90) BioGPS
- (91) Illumina
- (92) COMPARTMENTS
- (93) HOMER
- (94) PaxDb
- (95) ApexBio
- (96) Addgene
- (97) antibodies-online
- (98) CYP
- (99) NONCODE
- (100) SwitchGear Genomics
- (101) TreeFam
- (102) PathCards
- (103) GeneReviews
- (104) GeneTex
- (105) Taconic Biosciences
- (106) GTEx
- (107) ProteomicsDB
- (108) SCBT
- (109) DGIdb
- (110) ClinicalTrials
- (111) FDA Approved Drugs
- (112) RVIS
- (113) SIGNOR
- (114) diseasecard
- (115) NIH Rare Diseases
- (116) Orphanet
- (117) UMLS
- (118) GTR
- (119) Disease Ontology
- (120) Genetics Home Reference
- (121) MeSH
- (122) MedlinePlus
- (123) CDC
- (124) NINDS
- (125) NCBI Bookshelf
- (126) ClinVar
- (127) Gene Damage Index
- (128) ViGene Biosciences
- (129) HPO
- (130) UDN
- (131) VISTA
- (132) FANTOM5
- (133) ENCODE
- (134) ProSci
- (135) Horizon
- (136) NURSA
- (137) IID
- (138) Cyagen
- (139) VectorBuilder
- (140) SNPedia
- (141) BRCA Exchange
- (142) St John's Lab
- (143) CIViC
- (144) ProteoGenix
- (145) dbSUPER
- (146) TISSUES
- (147) Gene ORGANizer
- (148) abm
- (149) CrownBio
- (150) Human Protein Atlas
- (151) GWAS Catalog
- (152) Monarch Initiative
- (153) DataMed
- (154) HumanCyc
- (155) genomics-online
- (156) UCNEbase
- (157) EPDnew
- (158) Applied Biosystems
- (159) GlyConnect
- (160) Aminode
- (161) GeneCopoeia
- (162) GPS-Prot
- (163) RNACentral
- (164) LncRNADisease
- (165) LOVD
- (166) miR2Disease
- (167) DiseaseEnhancer
- (168) Boster Bio