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Details of GOSR2 gene in Homo sapiens
IDs |
|---|
| Link outs |
Gene Name |
Alias |
Uniprot ID |
SwissProt ID |
NCBI gene ID |
ENSEMBL ID |
Description |
Source |
|
| GOSR2 | GS27 | O14653 | GOSR2_HUMAN | 9570
| ENSG00000108433
| Golgi SNAP receptor complex member 2 | SPROT |
Disease |
|---|
| Disease |
OMIM id |
| Epilepsy, progressive myoclonic 6 (EPM6) [MIM:614018]: A neurologic disorder characterized by onset of ataxia in the first years of life, followed by action myoclonus and seizures later in childhood, and loss of independent ambulation in the second decade. Cognition is not usually affected, although mild memory difficulties may occur in the third decade. Note=The disease is caused by mutations affecting the gene represented in this entry. |
614018 |
