Entity Details
| Primary name |
S6A17_HUMAN |
| Entity type |
UniProt |
| Source |
Source Link |
Details
| Accession | Q9H1V8 |
| EntryName | S6A17_HUMAN |
| FullName | Sodium-dependent neutral amino acid transporter SLC6A17 |
| TaxID | 9606 |
| Evidence | evidence at protein level |
| Length | 727 |
| SequenceStatus | complete |
| DateCreated | 2001-09-26 |
| DateModified | 2021-06-02 |
Subcellular Location
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| Subcellular Location |
| Cell junction |
| Cytoplasmic vesicle |
Domains
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| Domain | Name | Category | Type |
| IPR000175 | Sodium:neurotransmitter symporter | Family | Family |
| IPR002438 | Neutral amino acid SLC6 transporter | Family | Family |
| IPR037272 | Sodium:neurotransmitter symporter superfamily | Family | Homologous superfamily |
Diseases
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| Disease ID | Source | Name | Description |
| 616269 | OMIM | Mental retardation, autosomal recessive 48 (MRT48) | A form of mental retardation, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRT48 patients show moderate to severe intellectual disability and additional features including progressive tremor, speech impairment, and sometimes behavioral problems. The disease is caused by variants affecting the gene represented in this entry. |
Interactions
1 interaction