Entity Details
| Primary name |
AUHM_HUMAN |
| Entity type |
UniProt |
| Source |
Source Link |
Details
| Accession | Q13825 |
| EntryName | AUHM_HUMAN |
| FullName | Methylglutaconyl-CoA hydratase, mitochondrial |
| TaxID | 9606 |
| Evidence | evidence at protein level |
| Length | 339 |
| SequenceStatus | complete |
| DateCreated | 2003-09-26 |
| DateModified | 2021-06-02 |
Subcellular Location
Show/Hide Table
| Subcellular Location |
| Mitochondrion |
Domains
Show/Hide Table
| Domain | Name | Category | Type |
| IPR001753 | Enoyl-CoA hydratase/isomerase | Family | Family |
| IPR014748 | Enoyl-CoA hydratase, C-terminal | Family | Homologous superfamily |
| IPR018376 | Enoyl-CoA hydratase/isomerase, conserved site | Site | Conserved site |
| IPR029045 | ClpP/crotonase-like domain superfamily | Family | Homologous superfamily |
Diseases
Show/Hide Table
| Disease ID | Source | Name | Description |
| 250950 | OMIM | 3-methylglutaconic aciduria 1 (MGCA1) | An inborn error of leucine metabolism. It leads to an autosomal recessive syndrome with variable clinical phenotype, ranging from delayed speech development to severe psychomotor retardation, coma, failure to thrive, metabolic acidosis and dystonia. MGCA1 can be distinguished from other forms of MGCA by the pattern of metabolite excretion: 3-methylglutaconic acid levels are higher than those detected in other forms, whereas methylglutaric acid levels are usually only slightly elevated and there is a high level of 3-hydroxyisovaleric acid excretion (not present in other MGCA forms). The disease is caused by variants affecting the gene represented in this entry. |
Interactions
2 interactions