Entity Details
| Primary name |
GHC1_HUMAN |
| Entity type |
UniProt |
| Source |
Source Link |
Details
| Accession | Q9H936 |
| EntryName | GHC1_HUMAN |
| FullName | Mitochondrial glutamate carrier 1 |
| TaxID | 9606 |
| Evidence | evidence at protein level |
| Length | 323 |
| SequenceStatus | complete |
| DateCreated | 2003-08-22 |
| DateModified | 2021-06-02 |
Subcellular Location
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| Subcellular Location |
| Mitochondrion inner membrane |
Domains
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| Domain | Name | Category | Type |
| IPR002067 | Mitochondrial carrier protein | Family | Family |
| 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 |
| 609304 | OMIM | Developmental and epileptic encephalopathy 3 (DEE3) | A severe form of epilepsy characterized by frequent tonic seizures or spasms beginning in infancy with a specific EEG finding of suppression-burst patterns, characterized by high-voltage bursts alternating with almost flat suppression phases. DEE3 is characterized by a very early onset, erratic and fragmentary myoclonus, massive myoclonus, partial motor seizures and late tonic spasms. The prognosis is poor, with no effective treatment, and children with the condition either die within 1 to 2 years after birth or survive in a persistent vegetative state. The disease is caused by variants affecting the gene represented in this entry. |
Drugs
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| Drug | Name | Source | Type |
| DB00142 | Glutamic acid | Drugbank | small molecule |
Interactions
2 interactions