Entity Details
| Primary name |
SOBP_HUMAN |
| Entity type |
UniProt |
| Source |
Source Link |
Details
| Accession | A7XYQ1 |
| EntryName | SOBP_HUMAN |
| FullName | Sine oculis-binding protein homolog |
| TaxID | 9606 |
| Evidence | evidence at protein level |
| Length | 873 |
| SequenceStatus | complete |
| DateCreated | 2007-12-04 |
| DateModified | 2021-06-02 |
Subcellular Location
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Domains
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| Domain | Name | Category | Type |
| IPR026092 | Retinoic acid-induced protein 2/sine oculis-binding protein homologue | Family | Family |
Diseases
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| Disease ID | Source | Name | Description |
| 613671 | OMIM | Mental retardation, anterior maxillary protrusion, and strabismus (MRAMS) | A syndrome characterized by severe mental retardation, strabismus and dysmorphic features such as anterior maxillary protrusion with vertical maxillary excess, open bite and prominent crowded teeth. Some patients may lack dysmorphic features and manifest temporal lobe epilepsy and psychosis. Esotropia and amblyopia are present in some individuals. The disease is caused by variants affecting the gene represented in this entry. |
Interactions
3 interactions