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Details of HADHB gene in Homo sapiens
IDs | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Link outs | Gene Name | Alias | Uniprot ID | SwissProt ID | NCBI gene ID | ENSEMBL ID | Description | Source | |
|
| HADHB | --- | P55084 | ECHB_HUMAN | 3032 | ENSG00000138029 | Trifunctional enzyme subunit beta, mitochondrial 3-ketoacyl-CoA thiolase | SPROT | |
Disease | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Disease | OMIM id | ||||||||
| Trifunctional protein deficiency (TFP deficiency) [MIM:609015]: The clinical manifestations are very variable and include hypoglycemia, cardiomyopathy and sudden death. Phenotypes with mainly hepatic and neuromyopathic involvement can also be distinguished. Biochemically, TFP deficiency is defined by the loss of all three enzyme activities of the TFP complex. Note=The disease is caused by mutations affecting the gene represented in this entry. | 609015 | ||||||||
Phenotypes
3-hydroxydicarboxylic aciduria, Abnormal glucose homeostasis, Abnormality of acid-base homeostasis, Abnormality of blood glucose concentration, Abnormality of body weight, Abnormality of carbohydrate metabolism/homeostasis, Abnormality of carboxylic acid metabolism, Abnormality of cardiovascular system physiology, Abnormality of dicarboxylic acid metabolism, Abnormality of fluid regulation, Abnormality of higher mental function, Abnormality of metabolism/homeostasis, Abnormality of movement, Abnormality of muscle morphology, Abnormality of muscle physiology, Abnormality of prenatal development or birth, Abnormality of the amniotic fluid, Abnormality of the cardiovascular system, Abnormality of the central nervous system, Abnormality of the eye, Abnormality of the fundus, Abnormality of the genitourinary system, Abnormality of the heart, Abnormality of the kidney, Abnormality of the lung, Abnormality of the musculature, Abnormality of the myocardium, Abnormality of the nervous system, Abnormality of the peripheral nervous system, Abnormality of the posterior segment of the eye, Abnormality of the renal tubule, Abnormality of the respiratory system, Abnormality of the retina, Abnormality of the upper urinary tract, Abnormality of the urinary system, Abnormality of the urinary system physiology, Abnormality of urine homeostasis, Abnormal muscle tone, Acidosis, All, Autosomal recessive inheritance, Cardiomyopathy, Cognitive impairment, Congestive heart failure, Decreased body weight, Dicarboxylic aciduria, Dilated cardiomyopathy, Diminished movement, Edema, Failure to thrive, Functional respiratory abnormality, Generalized muscle weakness, Global developmental delay, Growth abnormality, Hydrops fetalis, Hypoglycemia, Hypoketotic hypoglycemia, Hypokinesia, Lactic acidosis, Malformation of the heart and great vessels, Mode of inheritance, Muscle weakness, Muscular hypotonia, Myalgia, Myoglobinuria, Myopathy, Onset and clinical course, Pace of progression, Peripheral neuropathy, Phenotypic abnormality, Pigmentary retinopathy, Prenatal maternal abnormality, Proteinuria, Rapidly progressive, Recurrent hypoglycemia, Recurrent infantile hypoglycemia, Recurrent myoglobinuria, Reduced consciousness/confusion, Respiratory insufficiency, Retinopathy, Rhabdomyolysis, Slow progression, Small for gestational age.
Orthologs in other species | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| M. musculus | D. melonogaster | C. elegans | S. purpuratus | ||||||
| Hadhb | Thiolase | B0303.3 | Sp-Hadhb | ||||||
| Conserved gene 1 |
Conserved gene 2 |
Conserved score |
H. sapiens gene 1 |
H. sapiens gene 2 |
Complex ID | Corum | BioGrid | IRefWeb | Novelty |
|---|---|---|---|---|---|---|---|---|---|
| HADHB | ATP1B1 | 0.127652264 | HADHB | ATP1B1 | cpx203 | no | no | no | Novel |
| HADHA | HADHB | 1 | HADHA | HADHB | cpx203 | no | yes | no | Known |