HADH - hydroxyacyl-CoA dehydrogenase Gene
Also Known as HAD; HCDH; HHF4; HADH1; SCHAD; HADHSC; MSCHAD
Species: Homo sapiens
About HADH
This gene has 29 transcripts (splice variants), 182 orthologues, 3 paralogues and is associated with 4 phenotypes. Ubiquitous expression in fat (RPKM 86.5), kidney (RPKM 61.3) and 24 other tissues.
Summary
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 Products (3)
| mRNA | Protein | Name |
|---|---|---|
| NM_001184705.4 | NP_001171634.3 | hydroxyacyl-coenzyme A dehydrogenase, mitochondrial isoform 1 precursor |
| NM_001331027.2 | NP_001317956.2 | hydroxyacyl-coenzyme A dehydrogenase, mitochondrial isoform 3 |
| NM_005327.7 | NP_005318.6 | hydroxyacyl-coenzyme A dehydrogenase, mitochondrial isoform 2 precursor |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables 3-hydroxyacyl-CoA dehydrogenase activity |
IDA
IDA: Inferred from direct assay
|
11489939 | GOA |
| enables NAD+ binding |
IDA
IDA: Inferred from direct assay
|
10840044 | GOA |
| enables identical protein binding |
IDA
IDA: Inferred from direct assay
|
10231530 | GOA |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| involved in fatty acid beta-oxidation |
IDA
IDA: Inferred from direct assay
|
11489939 | GOA |
HADH Protein Structure
3HCDH_N: 3-hydroxyacyl-CoA dehydrogenase, NAD binding domain (29 - 214)
3HCDH: 3-hydroxyacyl-CoA dehydrogenase, C-terminal domain (216 - 313)
- 0
- 100
- 200
- 300
- 314 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
hydroxyacyl-coenzyme A dehydrogenase, mitochondrial |
|
HADH Antibodies
| Cat. No. | 상품명 | 신청 | Reactivity |
|---|---|---|---|
| HY-P86895 | HADH Antibody (YA6588) | WB, ICC/IF, IHC-P | Human, Mouse, Rat |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Hyperinsulinemic Hypoglycemia, Familial, 4 |
|
|
| 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
|
| Hypoglycemia |
|
|
| Hyperinsulinemic Hypoglycemia |
|
|
| Hyperinsulinism |
|
|
| Hyperinsulinemic Hypoglycemia, Familial, 6 |
|
|
| Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
|
| Myoglobinuria |
|
|
| Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
|
|
| Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
|
| Syndromic X-Linked Intellectual Disability Type 10 |
|
|
| Glutaric Acidemia I |
|
|
| Fetal Erythroblastosis |
|
|
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
|
| Mitochondrial Trifunctional Protein Deficiency |
|
|
| Alpha-Methylacetoacetic Aciduria |
|
|
| Galactosemia I |
|
|
| Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of |
|
|
| Hypoglycemia, Leucine-Induced |
|
|
| D-Bifunctional Protein Deficiency |
|
|
| Carnitine Deficiency, Systemic Primary |
|
|
| Carnitine Palmitoyltransferase I Deficiency |
|
|
| Shipyard Eye |
|
|
| Cystoisosporiasis |
|
|
| Fructose-1,6-Bisphosphatase Deficiency |
|
|
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
|
| Argininosuccinic Aciduria |
|
|
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
|
| Asphyxia Neonatorum |
|
|
| Maple Syrup Urine Disease |
|
|
| Myopathy |
|
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| Beckwith-Wiedemann Syndrome |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Canis familiaris | HADH | VGNC | VGNC:41584 |
| Felis catus | HADH | VGNC | VGNC:78507 |
| Macaca mulatta | HADH | VGNC | VGNC:73342 |
| Bos taurus | HADH | VGNC | VGNC:29741 |
| Mus musculus | HADH | MGD | MGI:96009 |
| Rattus norvegicus | HADH | RGD | RGD:69321 |
| Others | HADH | NCBI |