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Details of HADH gene in Homo sapiens
IDs | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Link outs | Gene Name | Alias | Uniprot ID | SwissProt ID | NCBI gene ID | ENSEMBL ID | Description | Source | |
|
| HADH | HAD,HADHSC,SCHAD | Q16836 | HCDH_HUMAN | 3033 | ENSG00000138796 | Hydroxyacyl-coenzyme A dehydrogenase, mitochondrial | SPROT |
| HADHA | HADH | P40939 | ECHA_HUMAN | 3030 | ENSG00000084754 | Trifunctional enzyme subunit alpha, mitochondrial Long-chain enoyl-CoA hydratase Long chain 3-hydroxyacyl-CoA dehydrogenase | SPROT |
Disease | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Disease | OMIM id | ||||||||
| 3-alpha-hydroxyacyl-CoA dehydrogenase deficiency (HADH deficiency) [MIM:231530]: A metabolic disorder with various clinical presentations including hypoglycemia, hepatoencephalopathy, myopathy or cardiomyopathy, and in some cases sudden death. Note=The disease is caused by mutations affecting the gene represented in this entry. | 231530 | 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. Note=The disease is caused by mutations affecting the gene represented in this entry. | 609975 | ||||||
Phenotypes
Abnormal glucose homeostasis, Abnormality of blood glucose concentration, Abnormality of carbohydrate metabolism/homeostasis, Abnormality of carboxylic acid metabolism, Abnormality of circulating hormone level, Abnormality of dicarboxylic acid metabolism, Abnormality of higher mental function, Abnormality of metabolism/homeostasis, Abnormality of movement, Abnormality of muscle physiology, Abnormality of the abdomen, Abnormality of the abdominal organs, Abnormality of the cardiovascular system, Abnormality of the central nervous system, Abnormality of the endocrine system, Abnormality of the genitourinary system, Abnormality of the heart, Abnormality of the liver, Abnormality of the musculature, Abnormality of the myocardium, Abnormality of the nervous system, Abnormality of the urinary system, Abnormality of the urinary system physiology, Abnormality of urine homeostasis, Abnormal muscle tone, Acute hepatic failure, All, Autosomal recessive inheritance, Cardiomyopathy, Cognitive impairment, Coma, Decreased liver function, Dicarboxylic aciduria, Dilated cardiomyopathy, Diminished movement, Encephalopathy, Fulminant hepatic failure, Growth abnormality, Growth delay, Hepatic failure, Hepatic necrosis, Hepatic steatosis, Heterogeneous, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypertrophic cardiomyopathy, Hypoglycemia, Hypoglycemic coma, Hypoglycemic encephalopathy, Hypoglycemic seizures, Hypokinesia, Intellectual disability, Malformation of the heart and great vessels, Mode of inheritance, Muscular hypotonia, Myoglobinuria, Onset and clinical course, Phenotypic abnormality, Phenotypic variability, Reduced consciousness/confusion, Seizures, Symptomatic seizures.
Orthologs in other species | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| M. musculus | D. melonogaster | C. elegans | S. purpuratus | ||||||
| Hadh | --- | B0272.3... | Sp-Hadhsc | ||||||
| Conserved gene 1 |
Conserved gene 2 |
Conserved score |
H. sapiens gene 1 |
H. sapiens gene 2 |
Complex ID | Corum | BioGrid | IRefWeb | Novelty |
|---|---|---|---|---|---|---|---|---|---|
| HADH | FKBP2 | 0.118648742 | HADH | FKBP2 | cpx154 | no | no | no | Novel |
| Conserved gene 1 |
Conserved gene 2 |
Conserved score |
H. sapiens gene 1 |
H. sapiens gene 2 |
|---|---|---|---|---|
| HADH | UBE2N | 0.08125637 | HADH | UBE2N |
| HADH | PSMA2 | 0.115696648 | HADH | PSMA2 |
| HADH | ETFB | 0.105896082 | HADH | ETFB |
| HADH | CLIC4 | 0.083378889 | HADH | CLIC4 |
| ACAT2 | HADH | 0.13217838 | ACAT2 | HADH |
| HADH | PSMA1 | 0.118102778 | HADH | PSMA1 |
| HADH | PSMB8 | 0.071717958 | HADH | PSMB8 |
| HADH | MMAB | 0.093824424 | HADH | MMAB |
| HADH | RSU1 | 0.133747516 | HADH | RSU1 |
| HADH | PITPNA | 0.100721481 | HADH | PITPNA |
| HADH | SF1 | 0.158022227 | HADH | SF1 |
| HADH | ETFA | 0.077223103 | HADH | ETFA |
| HADH | CLIC3 | 0.071558538 | HADH | CLIC3 |