Entity Details
| Primary name |
SC6A8_HUMAN |
| Entity type |
UniProt |
| Source |
Source Link |
Details
| Accession | P48029 |
| EntryName | SC6A8_HUMAN |
| FullName | Sodium- and chloride-dependent creatine transporter 1 |
| TaxID | 9606 |
| Evidence | evidence at protein level |
| Length | 635 |
| SequenceStatus | complete |
| DateCreated | 1996-02-01 |
| DateModified | 2021-06-02 |
Subcellular Location
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| Subcellular Location |
| Membrane |
Domains
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| Domain | Name | Category | Type |
| IPR000175 | Sodium:neurotransmitter symporter | Family | Family |
| IPR002984 | Sodium:neurotransmitter symporter, creatine | Family | Family |
| IPR037272 | Sodium:neurotransmitter symporter superfamily | Family | Homologous superfamily |
Diseases
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| Disease ID | Source | Name | Description |
| 300352 | OMIM | Cerebral creatine deficiency syndrome 1 (CCDS1) | An X-linked disorder of creatine transport characterized by mental retardation, severe speech delay, behavioral abnormalities, and seizures. Carrier females may show mild neuropsychologic impairment. The disease is caused by variants affecting the gene represented in this entry. |
Drugs
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| Drug | Name | Source | Type |
| DB00148 | Creatine | Drugbank | small molecule |
| DB13191 | Phosphocreatine | Drugbank | small molecule |
Interactions
3 interactions