Entity Details
| Primary name |
ELMD3_HUMAN |
| Entity type |
UniProt |
| Source |
Source Link |
Details
| Accession | Q96FG2 |
| EntryName | ELMD3_HUMAN |
| FullName | ELMO domain-containing protein 3 |
| TaxID | 9606 |
| Evidence | evidence at protein level |
| Length | 381 |
| SequenceStatus | complete |
| DateCreated | 2007-02-06 |
| DateModified | 2021-06-02 |
Subcellular Location
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| Subcellular Location |
| Cell projection |
| Cytoplasm |
Domains
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| Domain | Name | Category | Type |
| IPR006816 | ELMO domain | Domain | Domain |
| IPR030731 | ELMO domain-containing protein 3 | Family | Family |
Diseases
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| Disease ID | Source | Name | Description |
| 615429 | OMIM | Deafness, autosomal recessive, 88 (DFNB88) | A form of non-syndromic deafness characterized by prelingual onset of severe to profound mixed conductive and sensorineural hearing loss. The disease is caused by variants affecting the gene represented in this entry. |
Interactions
1 interaction