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This gene is a member of the 3-hydroxyacyl-CoA dehydrogenase gene family. The encoded protein functions in the mitochondrial matrix to catalyze the oxidation of straight-chain 3-hydroxyacyl-CoAs as part of the beta-oxidation pathway. Its enzymatic activity is highest with medium-chain-length fatty acids. Mutations in this gene cause one form of familial hyperinsulinemic hypogly... See more...
Aliases for HADH Gene
Aliases for HADH Gene
- Hydroxyacyl-CoA Dehydrogenase 2 3 5
- SCHAD 2 3 4
- Medium And Short-Chain L-3-Hydroxyacyl-Coenzyme A Dehydrogenase 3 4
- L-3-Hydroxyacyl-Coenzyme A Dehydrogenase, Short Chain 2 3
- Hydroxyacyl-Coenzyme A Dehydrogenase, Mitochondrial 3 4
- Short-Chain 3-Hydroxyacyl-CoA Dehydrogenase 3 4
- EC 1.1.1.35 4 51
- HADHSC 3 4
External Ids for HADH Gene
- HGNC: 4799
- Entrez Gene: 3033
- Ensembl: ENSG00000138796
- OMIM: 601609
- UniProtKB: Q16836
Previous HGNC Symbols for HADH Gene
- HADHSC
Previous GeneCards Identifiers for HADH Gene
- GC07U990046
- GC04P109130
- GC04P108910
- GC04P104642
Summaries for HADH Gene
-
This gene is a member of the 3-hydroxyacyl-CoA dehydrogenase gene family. The encoded protein functions in the mitochondrial matrix to catalyze the oxidation of straight-chain 3-hydroxyacyl-CoAs as part of the beta-oxidation pathway. Its enzymatic activity is highest with medium-chain-length fatty acids. Mutations in this gene cause one form of familial hyperinsulinemic hypoglycemia. The human genome contains a related pseudogene of this gene on chromosome 15. [provided by RefSeq, May 2010]
GeneCards Summary for HADH Gene
HADH (Hydroxyacyl-CoA Dehydrogenase) is a Protein Coding gene. Diseases associated with HADH include Hyperinsulinemic Hypoglycemia, Familial, 4 and 3-Hydroxyacyl-Coa Dehydrogenase Deficiency. Among its related pathways are Lysine degradation and Tryptophan metabolism. Gene Ontology (GO) annotations related to this gene include oxidoreductase activity and NAD binding. An important paralog of this gene is HADHA.
UniProtKB/Swiss-Prot Summary for HADH Gene
-
Plays an essential role in the mitochondrial beta-oxidation of short chain fatty acids. Exerts it highest activity toward 3-hydroxybutyryl-CoA.
Additional gene information for HADH Gene
- HGNC(4799)
- Entrez Gene(3033)
- Ensembl(ENSG00000138796)
- OMIM(601609)
- UniProtKB(Q16836)
- Open Targets Platform(ENSG00000138796)
- Monarch Initiative
- Search for HADH at DataMed
- Search for HADH at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for HADH Gene
Genomics for HADH Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for HADH Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around HADH on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for HADH
- Top Transcription factor binding sites by QIAGEN in the HADH gene promoter:
-
- c-Myb
- C/EBPalpha
- p300
- SREBP-1a
- SREBP-1b
- YY1
Genomic Locations for HADH Gene
Genomic Locations for HADH Gene
- chr4:107,989,714-108,035,175
- (GRCh38/hg38)
- Size:
- 45,462 bases
- Orientation:
- Plus strand
- chr4:108,910,870-108,956,331
- (GRCh37/hg19)
- Size:
- 45,462 bases
- Orientation:
- Plus strand
Genomic View for HADH Gene
Genes around HADH on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 4q25 by HGNC
- 4q25 by Entrez Gene
- 4q25 by Ensembl
HADH 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 HADH Gene
Proteins for HADH Gene
-
Protein details for HADH Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q16836-HCDH_HUMAN
- Recommended name:
- Hydroxyacyl-coenzyme A dehydrogenase, mitochondrial
- Protein Accession:
- Q16836
- J3KQ17
- O00324
- O00397
- O00753
- Q4W5B4
Protein attributes for HADH Gene
- Size:
- 314 amino acids
- Molecular mass:
- 34294 Da
- Quaternary structure:
-
- Homodimer.
Three dimensional structures from OCA and Proteopedia for HADH Gene
Protein Expression for HADH Gene
Selected DME Specific Peptides for HADH Gene
- Q16836:
-
- HFFNPVP
- PVMKLVEV
- CKDTPGFIVNRLLVPY
- DLVVEAIVEN
- AMKLGAGYPMGPFEL
- ANATTRQDRFAGLHFFNPVP
- ASNTSSL
Post-translational modifications for HADH Gene
- Succinylation at Lys-81, adjacent to a coenzyme A binding site. Desuccinylated by SIRT5 (By similarity).
-
Ubiquitination at Lys202
- NX_Q16836 (NX_Q16836-1)
- Modification sites at PhosphoSitePlus
Other Protein References for HADH Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- LifeSpan BioSciences HADH Monoclonal Antibody and HADH Antibody
- G Biosciences Immunotag™ HADH Antibody
-
Custom Antibody ServicesOriGene Antibodies for HADH
- AM31793PU-N
- AP21322AF-N
- AP21322BT-N
- AP21322PU-N
- CF802887
- CF802888
- CF802889
- CF802890
- CF802891
- CF802892
- CF802893
- CF802894
- CF802968
- TA302505
- TA324031
- TA326916
- TA802887
- TA802887S
- TA802888
- TA802888S
- TA802889
- TA802889S
- TA802890
- TA802890S
- TA802891
- TA802891S
- TA802892
- TA802892S
- TA802893
- TA802893S
- TA802894
- TA802894S
- TA802968
- TA802968S
- UM800048
- UM800048CF
- UM870048
- Novus Biologicals Antibodies for HADH
-
Abcam antibodies for HADH
- Invitrogen Antibodies for HADH (AFLGC-HADH)
-
Santa Cruz Biotechnology (SCBT) Antibodies for HADH
- Sino Biological Antibodies for HADH
Protein Products
- Search Origene for MassSpec and Protein Over-expression Lysates for HADH
- Origene Custom Protein Services for HADH
- ProSpec Recombinant Proteins for HADH
-
Signalway Proteins for HADH
Assay Products
-
Signalway ELISA kits for HADH
Domains & Families for HADH Gene
Gene Families for HADH Gene
- Human Protein Atlas (HPA):
-
- Disease related genes
- Enzymes
- Potential drug targets
- Predicted intracellular proteins
Protein Domains for HADH Gene
- InterPro:
- Blocks:
-
- 3-hydroxyacyl-CoA dehydrogenase
- 3-hydroxyacyl-CoA dehydrogenase, NAD binding domain
- ProtoNet:
Suggested Antigen Peptide Sequences for HADH Gene
- GenScript: Design optimal peptide antigens:
-
- Short-chain 3-hydroxyacyl-CoA dehydrogenase (HCDH_HUMAN)
Graphical View of Domain Structure for InterPro Entry
Q16836- Family:
-
- Belongs to the 3-hydroxyacyl-CoA dehydrogenase family.
Function for HADH Gene
Molecular function for HADH Gene
- UniProtKB/Swiss-Prot Function:
- Plays an essential role in the mitochondrial beta-oxidation of short chain fatty acids. Exerts it highest activity toward 3-hydroxybutyryl-CoA.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=a (3S)-hydroxyacyl-CoA + NAD(+) = a 3-oxoacyl-CoA + H(+) + NADH; Xref=Rhea:RHEA:22432, ChEBI:CHEBI:15378, ChEBI:CHEBI:57318, ChEBI:CHEBI:57540, ChEBI:CHEBI:57945, ChEBI:CHEBI:90726; EC=1.1.1.35;.
Enzyme Numbers (IUBMB) for HADH Gene
Phenotypes From GWAS Catalog for HADH Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0003857 | 3-hydroxyacyl-CoA dehydrogenase activity | IEA | -- |
| GO:0016491 | oxidoreductase activity | IEA | -- |
| GO:0070403 | NAD+ binding | IEA | -- |
Phenotypes for HADH Gene
- MGI mutant phenotypes for HADH:
- inferred from 2 alleles
- GenomeRNAi human phenotypes for HADH:
Animal Models for HADH Gene
- MGI Knock Outs for HADH:
-
- Hadh Hadh<tm1Csta>
Animal Model Products
-
Taconic Biosciences Mouse Models for HADH
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for HADH - Select products 50% OFF >
- * HADH CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for HADH
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for HADH
-
Santa Cruz Biotechnology (SCBT) CRISPR for HADH
miRNA for HADH Gene
- miRTarBase miRNAs that target HADH
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for HADH
- Browse OriGene Inhibitory RNA Products For HADH
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for HADH
Clone Products
- Applied Biological Materials (abm): Clones for HADH - Select products 50% OFF >
- * HADH as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for HADH
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for HADH
Cell Line Products
-
Horizon Cell Lines for HADH
No data available for Transcription Factor Targets and HOMER Transcription for HADH Gene
Localization for HADH Gene
Subcellular locations from UniProtKB/Swiss-Prot for HADH Gene
- Mitochondrion matrix.
| Compartment | Confidence |
|---|---|
| mitochondrion | 5 |
| nucleus | 5 |
| plasma membrane | 2 |
| extracellular | 2 |
| cytoskeleton | 2 |
| peroxisome | 2 |
| endoplasmic reticulum | 2 |
| cytosol | 2 |
| endosome | 1 |
| lysosome | 1 |
| golgi apparatus | 1 |
- Mitochondria (3)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005654 | nucleoplasm | IDA | -- |
| GO:0005737 | cytoplasm | IDA | -- |
| GO:0005739 | mitochondrion | IDA | -- |
| GO:0005759 | mitochondrial matrix | TAS | -- |
Pathways & Interactions for HADH Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Mitochondrial Fatty Acid Beta-Oxidation | ||
| 2 | Metabolism |
.40
|
|
| 3 | Fatty Acyl-CoA Biosynthesis | ||
| 4 | Tryptophan metabolism | ||
| 5 | Beta oxidation of decanoyl-CoA to octanoyl-CoA-CoA | ||
Pathways by source for HADH Gene
8 BioSystems pathways for HADH Gene
8 KEGG pathways for HADH Gene
UniProtKB/Swiss-Prot Q16836-HCDH_HUMAN
- Pathway: Lipid metabolism; fatty acid beta-oxidation.
Interacting Proteins for HADH Gene
GPS-Prot Interaction Network for HADH
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006629 | lipid metabolic process | IEA | -- |
| GO:0006631 | fatty acid metabolic process | IEA | -- |
| GO:0006635 | fatty acid beta-oxidation | TAS | -- |
| GO:0009725 | response to hormone | IEA | -- |
| GO:0014823 | response to activity | IEA | -- |
No data available for SIGNOR curated interactions for HADH Gene
Drugs & Compounds for HADH Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| NADH | Approved | Nutra | Target | 0 | ||
| Omega-3-carboxylic acids | Approved, Investigational | Pharma | Target, potentiator | 0 | ||
| Gimeracil | Approved | Pharma | Dihydropyrimidine dehydrogenase inhibitor | 0 | ||
| Mycophenolate mofetil | Approved, Investigational | Pharma | IMPDH inhibitor | 0 | ||
| Stiripentol | Approved | Pharma | An LDH inhibitor | 11 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| (3S)-3-Hydroxyadipyl-CoA |
|
|
||||
| (S)-3-Hydroxydodecanoyl-CoA |
|
72059-49-5 |
|
|||
| (S)-3-Hydroxyhexadecanoyl-CoA |
|
35106-50-4 |
|
|||
| (S)-3-Hydroxyisobutyric acid |
|
2068-83-9 |
|
|||
| (S)-3-Hydroxytetradecanoyl-CoA |
|
|
(7) ApexBio Compounds for HADH Gene
| Compound | Action | Cas Number |
|---|---|---|
| AGI-6780 | IDH2/R140Q mutation inhibitor | 1432660-47-3 |
| CPI-613 | PDH/α-KGDH inhibitor | 95809-78-2 |
| Gimeracil | Dihydropyrimidine dehydrogenase inhibitor | 103766-25-2 |
| Isosafrole | A stiripentol analog, a potent LDH inhibitor. | 120-58-1 |
| Mycophenolate Mofetil | IMPDH inhibitor | 128794-94-5 |
| Stiripentol | An LDH inhibitor | 49763-96-4 |
| Trilostane | 13647-35-3 |
Transcripts for HADH Gene
mRNA/cDNA for HADH Gene
- 3 REFSEQ mRNAs :
- 10 NCBI additional mRNA sequence :
- 23 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000309522 1803 nts (view in UCSC)
- ENST00000403312 1752 nts (view in UCSC)
- ENST00000505878 1719 nts (view in UCSC)
- ENST00000507260 3057 nts (view in UCSC)
- ENST00000510728 751 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for HADH - Select products 50% OFF >
- * HADH CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for HADH
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for HADH
-
Santa Cruz Biotechnology (SCBT) CRISPR for HADH
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for HADH
- Browse OriGene Inhibitory RNA Products For HADH
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for HADH
Clone Products
- Applied Biological Materials (abm): Clones for HADH - Select products 50% OFF >
- * HADH as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for HADH
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for HADH
| ExUns: | 1a | · | 1b | · | 1c | · | 1d | ^ | 2a | · | 2b | ^ | 3 | ^ | 4 | ^ | 5a | · | 5b | ^ | 6a | · | 6b | ^ | 7 | ^ | 8a | · | 8b | ^ | 9 | ^ | 10 | ^ | 11a | · | 11b |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | - | - | |||||||||||||||||||||||||||||||||
| SP2: | - | - | - | ||||||||||||||||||||||||||||||||||
| SP3: | - | - | - | - | - | ||||||||||||||||||||||||||||||||
| SP4: | - | - | |||||||||||||||||||||||||||||||||||
| SP5: | |||||||||||||||||||||||||||||||||||||
| SP6: | - |
Relevant External Links for HADH Gene
- GeneLoc Exon Structure for
- HADH
Expression for HADH Gene
mRNA differential expression in normal tissues according to GTEx for HADH Gene
This gene is overexpressed in Heart - Left Ventricle (x4.4).
This gene is overexpressed in Liver, secretome (9.9).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for HADH Gene
- Elite partner
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for HADH
SOURCE GeneReport for Unigene cluster for HADH Gene:
Hs.438289mRNA Expression by UniProt/SwissProt for HADH Gene:
Q16836-HCDH_HUMAN
Tissue specificity:
Expressed in liver, kidney, pancreas, heart and skeletal muscle.
Evidence on tissue expression from TISSUES for HADH Gene
- Muscle(4.7)
- Liver(4.6)
- Lung(4.4)
- Heart(4.3)
- Nervous system(4.1)
- Intestine(3.5)
- Pancreas(3.5)
- Kidney(3.1)
- Blood(2.9)
- Skin(2.6)
- Spleen(2.3)
- Stomach(2.2)
- Bone marrow(2.2)
- Lymph node(2.1)
- Thyroid gland(2.1)
Phenotype-based relationships between genes and organs from Gene ORGANizer for HADH Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- cardiovascular
- digestive
- endocrine
- integumentary
- nervous
- skeletal muscle
- urinary
Regions:
Head and neck:
- brain
- ear
- head
Thorax:
- heart
- heart valve
Abdomen:
- adrenal gland
- kidney
- liver
- pancreas
General:
- peripheral nerve
- peripheral nervous system
- skin
- sweat gland
Primer Products
-
OriGene qPCR primer pairs for HADH
-
OriGene qPCR primer pairs and template standards for HADH
Gene Expression Assay Products
No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for HADH Gene
Orthologs for HADH Gene
This gene was present in the common ancestor of eukaryotes.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | HADH 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | HADH 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | HADH 30 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Hadh 30 |
|
||
| Mouse (Mus musculus) |
Mammalia | Hadh 30 17 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | HADH 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | HADH 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | HADH 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | HADH 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | hadh 30 |
|
||
| Str.7598 30 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | hadhsc-prov 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | hadh 30 31 |
|
OneToOne | |
| wufb66a11 30 |
|
||||
| Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.8646 30 |
|
||
| Worm (Caenorhabditis elegans) |
Secernentea | B0272.3 30 31 |
|
OneToMany | |
| F54C8.1 31 |
|
OneToMany | |||
| hacd-1 31 |
|
OneToMany | |||
| Thale Cress (Arabidopsis thaliana) |
eudicotyledons | AT3G15290 30 |
|
||
| Rice (Oryza sativa) |
Liliopsida | Os01g0796400 30 |
|
||
| Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.2628 31 |
|
OneToOne | |
| Bread mold (Neurospora crassa) |
Ascomycetes | NCU09553 30 |
|
||
| Sea Vase (Ciona intestinalis) |
Ascidiacea | Cin.1772 30 |
|
- Species where no ortholog for HADH was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- Alpha proteobacteria (Wolbachia pipientis)
- Amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- Baker's yeast (Saccharomyces cerevisiae)
- Barley (Hordeum vulgare)
- Beta proteobacteria (Neisseria meningitidis)
- 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)
- Fruit Fly (Drosophila melanogaster)
- 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)
- 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)
- Tomato (Lycopersicon esculentum)
- Toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- Wheat (Triticum aestivum)
Evolution for HADH Gene
- ENSEMBL:
- Gene Tree for HADH (if available)
- TreeFam:
- Gene Tree for HADH (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for HADH: view image
Paralogs for HADH Gene
Variants for HADH Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for HADH Gene
| SNP ID | Clinical significance and condition | Chr 04 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 640701 | Uncertain Significance: Deficiency of 3-hydroxyacyl-CoA dehydrogenase | 108,014,435(+) | G/A | MISSENSE_VARIANT | |
| 647412 | Uncertain Significance: Deficiency of 3-hydroxyacyl-CoA dehydrogenase | 108,034,320(+) | G/T | MISSENSE_VARIANT | |
| 652881 | Uncertain Significance: Hyperinsulinemic hypoglycemia, familial, 4; Deficiency of 3-hydroxyacyl-CoA dehydrogenase | 108,014,518(+) | G/C | MISSENSE_VARIANT | |
| 659541 | Uncertain Significance: Deficiency of 3-hydroxyacyl-CoA dehydrogenase | 107,990,032(+) | G/C | MISSENSE_VARIANT | |
| 704870 | Likely Benign: Deficiency of 3-hydroxyacyl-CoA dehydrogenase | 107,990,031(+) | C/G | MISSENSE_VARIANT |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv2759272 | CNV | loss | 17122850 |
| nsv1003893 | CNV | gain | 25217958 |
Residual Variation Intolerance Score:
69.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
7.07;
80.39% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for HADH Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HADH Gene
Disorders for HADH Gene
(28) MalaCards diseases for HADH Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| hyperinsulinemic hypoglycemia, familial, 4 |
|
|
| 3-hydroxyacyl-coa dehydrogenase deficiency |
|
|
| hyperinsulinemic hypoglycemia |
|
|
| hypoglycemia |
|
|
| hyperinsulinism |
|
Search HADH in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
HCDH_HUMAN- 3-alpha-hydroxyacyl-CoA dehydrogenase deficiency (HADH deficiency) [MIM:231530]: An autosomal recessive, metabolic disorder with various clinical presentations including hypoglycemia, hepatoencephalopathy, myopathy or cardiomyopathy, and in some cases sudden death. {ECO:0000269 Ref.13}. Note=The disease is caused by mutations affecting the gene represented in this entry.
- Familial hyperinsulinemic hypoglycemia 4 (HHF4) [MIM:609975]: Most common cause of persistent hypoglycemia in infancy. Unless early and aggressive intervention is undertaken, brain damage from recurrent episodes of hypoglycemia may occur. HHF4 should be easily recognizable by analysis of acylcarnitine species and that this disorder responds well to treatment with diazoxide. It provides the first 'experiment of nature' that links impaired fatty acid oxidation to hyperinsulinism and that provides support for the concept that a lipid signaling pathway is implicated in the control of insulin secretion. {ECO:0000269 PubMed:11489939}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Additional Disease Information for HADH
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
No data available for Genatlas for HADH Gene
Publications for HADH Gene
- 3-Hydroxyacyl-CoA dehydrogenase and short chain 3-hydroxyacyl-CoA dehydrogenase in human health and disease. (PMID: 16176262) Yang SY … Schulz H (The FEBS journal 2005) 2 3 4 23
- Hyperinsulinism in short-chain L-3-hydroxyacyl-CoA dehydrogenase deficiency reveals the importance of beta-oxidation in insulin secretion. (PMID: 11489939) Clayton PT … van den Berg IE (The Journal of clinical investigation 2001) 3 4 23
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ExternalLinks
Products for HADH Gene
- Custom Antibody ServicesOriGene Antibodies for HADH
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- antibodies-online: Show 47 available HADH Antibodies ranked by validation data
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- antibodies-online: Show 15 available HADH Proteins ranked by validation data
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- Santa Cruz Biotechnology (SCBT) Antibodies for HADH
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- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for HADH
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- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for HADH
Sources for HADH Gene
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