Entity Details
| Primary name |
EXPH5_HUMAN |
| Entity type |
UniProt |
| Source |
Source Link |
Details
| Accession | Q8NEV8 |
| EntryName | EXPH5_HUMAN |
| FullName | Exophilin-5 |
| TaxID | 9606 |
| Evidence | evidence at protein level |
| Length | 1989 |
| SequenceStatus | complete |
| DateCreated | 2003-07-25 |
| DateModified | 2021-06-02 |
Subcellular Location
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Domains
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| Domain | Name | Category | Type |
| IPR010911 | Rab-binding domain | Domain | Domain |
| IPR039916 | Exophilin-5 | Family | Family |
Diseases
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| Disease ID | Source | Name | Description |
| 615028 | OMIM | Epidermolysis bullosa, non-specific, autosomal recessive (EBNS) | A skin disease characterized by blistering of skin and mucosae, following minimal pressure or trauma. Various clinical types with different severity are recognized, ranging from severe mutilating forms to mild forms with limited and localized scarring, and less frequent extracutaneous manifestations. EBNS clinical features mainly comprise trauma-induced scale crusts and intermittent skin blistering. Some of the crusted areas are hemorrhagic and accompanied by occasional bruising. Most lesions clear over several weeks to leave slightly atrophic scars and moderate post-inflammatory hyperpigmentation. The disease is caused by variants affecting the gene represented in this entry. |
Interactions
3 interactions