Entity Details
| Primary name |
ORNT1_HUMAN |
| Entity type |
UniProt |
| Source |
Source Link |
Details
| Accession | Q9Y619 |
| EntryName | ORNT1_HUMAN |
| FullName | Mitochondrial ornithine transporter 1 |
| TaxID | 9606 |
| Evidence | evidence at protein level |
| Length | 301 |
| SequenceStatus | complete |
| DateCreated | 2002-02-11 |
| DateModified | 2021-06-02 |
Subcellular Location
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| Subcellular Location |
| Mitochondrion inner membrane |
Domains
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| Domain | Name | Category | Type |
| IPR018108 | Mitochondrial substrate/solute carrier | Repeat | Repeat |
| IPR023395 | Mitochondrial carrier domain superfamily | Family | Homologous superfamily |
Diseases
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| Disease ID | Source | Name | Description |
| 238970 | OMIM | Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (HHHS) | An autosomal recessive disorder of the urea cycle characterized by onset in early life. The acute phase of the disease is characterized by vomiting, ataxia, lethargy, confusion, and coma. Chronic clinical manifestations include hypotonia, developmental delay, progressive encephalopathy with mental regression, and spastic paraparesis with pyramidal signs. The disease is caused by variants affecting the gene represented in this entry. |
Drugs
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| Drug | Name | Source | Type |
| DB00129 | Ornithine | Drugbank | small molecule |
Interactions
0 interactions
| Interactor | Partner | Sources | Publications | Link |