Entity Details
| Primary name |
HGD_HUMAN |
| Entity type |
UniProt |
| Source |
Source Link |
Details
| Accession | Q93099 |
| EntryName | HGD_HUMAN |
| FullName | Homogentisate 1,2-dioxygenase |
| TaxID | 9606 |
| Evidence | evidence at protein level |
| Length | 445 |
| SequenceStatus | complete |
| DateCreated | 1997-11-01 |
| DateModified | 2021-06-02 |
Subcellular Location
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Domains
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| Domain | Name | Category | Type |
| IPR005708 | Homogentisate 1,2-dioxygenase | Family | Family |
| IPR011051 | RmlC-like cupin domain superfamily | Family | Homologous superfamily |
| IPR014710 | RmlC-like jelly roll fold | Family | Homologous superfamily |
Diseases
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| Disease ID | Source | Name | Description |
| 203500 | OMIM | Alkaptonuria (AKU) | An autosomal recessive error of metabolism characterized by an increase in the level of homogentisic acid. The clinical manifestations are urine that turns dark on standing and alkalinization, black ochronotic pigmentation of cartilage and collagenous tissues, and spine arthritis. The disease is caused by variants affecting the gene represented in this entry. |
Interactions
6 interactions