Entity Details
| Primary name |
T4S20_HUMAN |
| Entity type |
UniProt |
| Source |
Source Link |
Details
| Accession | Q53R12 |
| EntryName | T4S20_HUMAN |
| FullName | Transmembrane 4 L6 family member 20 |
| TaxID | 9606 |
| Evidence | evidence at protein level |
| Length | 229 |
| SequenceStatus | complete |
| DateCreated | 2006-10-03 |
| DateModified | 2021-06-02 |
Subcellular Location
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| Subcellular Location |
| Endoplasmic reticulum membrane |
| Membrane |
Domains
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| Domain | Name | Category | Type |
| IPR008661 | L6 membrane | Family | Family |
Diseases
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| Disease ID | Source | Name | Description |
| 615432 | OMIM | Specific language impairment 5 (SLI5) | A disorder characterized by a delay in early speech acquisition. It is usually associated with cerebral white matter abnormalities on brain MRI. Some individuals may show disorders in communication, consistent with autism spectrum disorder, or global developmental delay, although others ultimately show normal cognitive function. Penetrance is incomplete and expressivity is variable. The disease is caused by variants affecting the gene represented in this entry. |
Interactions
5 interactions