Entity Details
| Primary name |
EMARD_HUMAN |
| Entity type |
UniProt |
| Source |
Source Link |
Details
| Accession | Q5T6L9 |
| EntryName | EMARD_HUMAN |
| FullName | Endoplasmic reticulum membrane-associated RNA degradation protein |
| TaxID | 9606 |
| Evidence | evidence at transcript level |
| Length | 678 |
| SequenceStatus | complete |
| DateCreated | 2007-07-24 |
| DateModified | 2021-06-02 |
Subcellular Location
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| Subcellular Location |
| Endoplasmic reticulum membrane |
Domains
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| Domain | Name | Category | Type |
| IPR025209 | Domain of unknown function DUF4209 | Domain | Domain |
| IPR039635 | Endoplasmic reticulum membrane-associated RNA degradation protein | Family | Family |
Diseases
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| Disease ID | Source | Name | Description |
| 615544 | OMIM | Periventricular nodular heterotopia 6 (PVNH6) | A form of periventricular nodular heterotopia, a disorder resulting from a defect in the pattern of neuronal migration in which ectopic collections of neurons lie along the lateral ventricles of the brain or just beneath, contiguously or in isolated patches. PVNH6 results in delayed psychomotor development, delayed speech, strabismus, and onset of seizures with hypsarrhythmia in early infancy. The disease is caused by variants affecting the gene represented in this entry. |
Interactions
0 interactions
| Interactor | Partner | Sources | Publications | Link |