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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 hypoglycemia. The human genome contains a related pseudogene of this gene on chromosome 15. [provided by RefSeq, May 2010]
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.
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 | -- |
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 | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Mitochondrial Fatty Acid Beta-Oxidation | ||
2 | Metabolism |
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3 | Fatty Acyl-CoA Biosynthesis | ||
4 | Tryptophan metabolism | ||
5 | Beta oxidation of decanoyl-CoA to octanoyl-CoA-CoA |
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 | -- |
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 |
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(S)-3-Hydroxydodecanoyl-CoA |
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72059-49-5 |
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(S)-3-Hydroxyhexadecanoyl-CoA |
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35106-50-4 |
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(S)-3-Hydroxyisobutyric acid |
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2068-83-9 |
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(S)-3-Hydroxytetradecanoyl-CoA |
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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 |
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: | - |
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 |
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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 |
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Str.7598 30 |
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African clawed frog (Xenopus laevis) |
Amphibia | hadhsc-prov 30 |
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Zebrafish (Danio rerio) |
Actinopterygii | hadh 30 31 |
|
OneToOne | |
wufb66a11 30 |
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Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.8646 30 |
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Worm (Caenorhabditis elegans) |
Secernentea | B0272.3 30 31 |
|
OneToMany | |
F54C8.1 31 |
|
OneToMany | |||
hacd-1 31 |
|
OneToMany | |||
Thale Cress (Arabidopsis thaliana) |
eudicotyledons | AT3G15290 30 |
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Rice (Oryza sativa) |
Liliopsida | Os01g0796400 30 |
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Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.2628 31 |
|
OneToOne | |
Bread mold (Neurospora crassa) |
Ascomycetes | NCU09553 30 |
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Sea Vase (Ciona intestinalis) |
Ascidiacea | Cin.1772 30 |
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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 |
Disorder | Aliases | PubMed IDs |
---|---|---|
hyperinsulinemic hypoglycemia, familial, 4 |
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3-hydroxyacyl-coa dehydrogenase deficiency |
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hyperinsulinemic hypoglycemia |
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hypoglycemia |
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hyperinsulinism |
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