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hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta
Summary
- Gene Symbol
-
- HADHB
- Aliases
-
- MTPB
- mitochondrial trifunctional protein, beta subunit
- Organism
- Homo sapiens (human)
Annotation
- Keyword
-
- 3D-structure
- Acetylation
- Acyltransferase
- Alternative splicing
- Direct protein sequencing
- Disease variant
- Endoplasmic reticulum
- Fatty acid metabolism
- Mitochondrion inner membrane
- Mitochondrion outer membrane
- Proteomics identification
- Reference proteome
- Transit peptide
- Proteins
Gene Ontology (GO)
| GO Term | Evidence Code | PMID |
|---|---|---|
| fatty acid beta-oxidation | ||
| cellular response to lipopolysaccharide | ||
| gene expression |
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| endoplasmic reticulum | ||
| mitochondrial inner membrane | ||
| mitochondrial outer membrane | ||
| mitochondrial envelope |
|
|
| mitochondrion |
| GO Term | Evidence Code | PMID |
|---|---|---|
| lncRNA binding | ||
| acetyl-CoA C-acyltransferase activity |
|
|
| acetyl-CoA C-myristoyltransferase activity | ||
| enoyl-CoA hydratase activity |
|
|
| acetyl-CoA C-acetyltransferase activity |
Human Protein Atlas
Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.
KEGG BRITE Database
Rhea
Disease
- Disease Ontology
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:0050539 | Charcot-Marie-Tooth disease type 2 | |
| DOID:0050572 | cone-rod dystrophy | |
| DOID:10652 | Alzheimer's disease | |
| DOID:0050700 | cardiomyopathy | |
| DOID:0050766 | choreaacanthocytosis | |
| DOID:0060600 | obsolete hereditary motor and sensory neuropathy with agenesis of the corpus callosum | |
| DOID:0060843 | hereditary neuropathy with liability to pressure palsies | |
| DOID:0070161 | hereditary sensory and autonomic neuropathy type 2 | |
| DOID:0080108 | myoglobinuria | |
| DOID:0080199 | colorectal carcinoma |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001761 | Pes cavus |
| HP:0001942 | Metabolic acidosis |
| HP:0001943 | Hypoglycemia |
| HP:0001985 | Hypoketotic hypoglycemia |
| HP:0001987 | Hyperammonemia |
| HP:0002033 | Poor suck |
| HP:0002069 | Bilateral tonic-clonic seizure |
| HP:0002093 | Respiratory insufficiency |
| HP:0002151 | Increased circulating lactate concentration |
| HP:0002359 | Frequent falls |
| Disease ID | Disease Name |
|---|---|
| OMIM:620300 |
|
| ORPHA:746 |
|
PubChem Disease
- GHR Health Conditions
- MedGen Diseases
- OMIM Phenotypes
- KEGG Diseases
LIPID MAPS Gene / Proteome Database
- LMPD ID
- LMP001640
- Gene Name
- hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit
Ortholog
| Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
|---|---|---|---|
| 176216 | WB:WBGene00015125 | ||
| 37784 | FB:FBgn0025352 | ||
| 103183148 | CALMI26668 | ||
| 336606 | ZFIN:ZDB-GENE-030131-8550 | DANRE20284 | |
| 103046325 | ASTMX13017 | ||
| 108257741 | ICTPU25960 | ||
| 115207341 | SALTR23416 | ||
| 115534529 | GADMO31840 | ||
| 100709781 | ORENI18205 | ||
| 115574192 | SPAAU61660 |
