Entity Details
| Primary name |
HIBCH_HUMAN |
| Entity type |
UniProt |
| Source |
Source Link |
Details
| Accession | Q6NVY1 |
| EntryName | HIBCH_HUMAN |
| FullName | 3-hydroxyisobutyryl-CoA hydrolase, mitochondrial |
| TaxID | 9606 |
| Evidence | evidence at protein level |
| Length | 386 |
| SequenceStatus | complete |
| DateCreated | 2007-05-01 |
| DateModified | 2021-06-02 |
Subcellular Location
Show/Hide Table
| Subcellular Location |
| Mitochondrion |
Domains
Show/Hide Table
| Domain | Name | Category | Type |
| IPR029045 | ClpP/crotonase-like domain superfamily | Family | Homologous superfamily |
| IPR032259 | Enoyl-CoA hydratase/isomerase, HIBYL-CoA-H type | Family | Family |
Diseases
Show/Hide Table
| Disease ID | Source | Name | Description |
| 250620 | OMIM | 3-hydroxyisobutryl-CoA hydrolase deficiency (HIBCHD) | An autosomal recessive inborn error of valine metabolism. It causes severely delayed psychomotor development, neurodegeneration, increased lactic acid, and brain lesions in the basal ganglia. The disease is caused by variants affecting the gene represented in this entry. |
Drugs
Show/Hide Table
| Drug | Name | Source | Type |
| DB04216 | Quercetin | Drugbank | small molecule |
Interactions
1 interaction