Entity Details
| Primary name |
EPG5_HUMAN |
| Entity type |
UniProt |
| Source |
Source Link |
Details
| Accession | Q9HCE0 |
| EntryName | EPG5_HUMAN |
| FullName | Ectopic P granules protein 5 homolog |
| TaxID | 9606 |
| Evidence | evidence at protein level |
| Length | 2579 |
| SequenceStatus | complete |
| DateCreated | 2007-10-02 |
| DateModified | 2021-06-02 |
Subcellular Location
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| Subcellular Location |
| Cytoplasm |
| Lysosome |
Domains
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| Domain | Name | Category | Type |
| IPR029651 | Ectopic P granules protein 5 | Family | Family |
Diseases
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| Disease ID | Source | Name | Description |
| 242840 | OMIM | Vici syndrome (VICIS) | A rare congenital multisystem disorder characterized by agenesis of the corpus callosum, cataracts, pigmentary defects, progressive cardiomyopathy, and variable immunodeficiency. Affected individuals also have profound psychomotor retardation and hypotonia due to a myopathy. The disease is caused by variants affecting the gene represented in this entry. Affected individuals show homozygosity or compound heterozygosity for truncating mutations, aberrant splicing and/or missense mutations. Parental studies suggest recessive inheritance with no carrier manifestation (PubMed:23222957). |
Interactions
4 interactions