Entity Details
| Primary name |
S52A2_HUMAN |
| Entity type |
UniProt |
| Source |
Source Link |
Details
| Accession | Q9HAB3 |
| EntryName | S52A2_HUMAN |
| FullName | Solute carrier family 52, riboflavin transporter, member 2 |
| TaxID | 9606 |
| Evidence | evidence at protein level |
| Length | 445 |
| SequenceStatus | complete |
| DateCreated | 2005-10-11 |
| DateModified | 2021-06-02 |
Subcellular Location
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| Subcellular Location |
| Cell membrane |
Domains
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| Domain | Name | Category | Type |
| IPR009357 | Solute carrier family 52, riboflavin transporter | Family | Family |
Diseases
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| Disease ID | Source | Name | Description |
| 614707 | OMIM | Brown-Vialetto-Van Laere syndrome 2 (BVVLS2) | An autosomal recessive progressive neurologic disorder characterized by early childhood onset of sensorineural deafness, bulbar dysfunction, and severe diffuse muscle weakness and wasting resulting in respiratory insufficiency and loss of independent ambulation. Because it results from a defect in riboflavin metabolism, some patients may benefit from high-dose riboflavin supplementation. The disease is caused by variants affecting the gene represented in this entry. |
Drugs
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| Drug | Name | Source | Type |
| DB01440 | gamma-Hydroxybutyric acid | Drugbank | small molecule |
Interactions
4 interactions