Metazoan complexes |
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Emili & Marcotte labs |
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Details of SLC25A22 gene in Homo sapiens
IDs | |||||||||
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Link outs | Gene Name | Alias | Uniprot ID | SwissProt ID | NCBI gene ID | ENSEMBL ID | Description | Source | |
| SLC25A22 | GC1 | Q9H936 | GHC1_HUMAN | 79751 | ENSG00000177542 | Mitochondrial glutamate carrier 1 | SPROT |
Disease | |||||||||
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Disease | OMIM id | ||||||||
Epileptic encephalopathy, early infantile, 3 (EIEE3) [MIM:609304]: 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. Epileptic encephalopathy early infantile type 3 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. Note=The disease is caused by mutations affecting the gene represented in this entry. | 609304 |
Orthologs in other species | |||||||||
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M. musculus | D. melonogaster | C. elegans | S. purpuratus | ||||||
Slc25a22 | CG18347... | F20D1.9... | SPU_023325 |
Conserved gene 1 |
Conserved gene 2 |
Conserved score |
H. sapiens gene 1 |
H. sapiens gene 2 |
Complex ID | Corum | BioGrid | IRefWeb | Novelty |
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Conserved gene 1 |
Conserved gene 2 |
Conserved score |
H. sapiens gene 1 |
H. sapiens gene 2 |
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