Entity Details
| Primary name |
SGCE_HUMAN |
| Entity type |
UniProt |
| Source |
Source Link |
Details
| Accession | O43556 |
| EntryName | SGCE_HUMAN |
| FullName | Epsilon-sarcoglycan |
| TaxID | 9606 |
| Evidence | evidence at protein level |
| Length | 437 |
| SequenceStatus | complete |
| DateCreated | 2001-04-27 |
| DateModified | 2021-06-02 |
Subcellular Location
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| Subcellular Location |
| Cell membrane |
| Cell projection |
| Cytoplasm |
| Golgi apparatus |
Domains
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| Domain | Name | Category | Type |
| IPR006644 | Dystroglycan-type cadherin-like | Domain | Domain |
| IPR008908 | Sarcoglycan alpha/epsilon | Family | Family |
| IPR030775 | Epsilon-sarcoglycan | Family | Family |
Diseases
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| Disease ID | Source | Name | Description |
| 159900 | OMIM | Dystonia 11, myoclonic (DYT11) | A myoclonic dystonia. Dystonia is defined by the presence of sustained involuntary muscle contractions, often leading to abnormal postures. DYT11 is characterized by involuntary lightning jerks and dystonic movements and postures alleviated by alcohol. Inheritance is autosomal dominant. The age of onset, pattern of body involvement, presence of myoclonus and response to alcohol are all variable. The disease is caused by variants affecting the gene represented in this entry. |
Interactions
4 interactions