Entity Details
| Primary name |
RXLT1_HUMAN |
| Entity type |
UniProt |
| Source |
Source Link |
Details
| Accession | Q9Y2B1 |
| EntryName | RXLT1_HUMAN |
| FullName | Ribitol-5-phosphate xylosyltransferase 1 |
| TaxID | 9606 |
| Evidence | evidence at protein level |
| Length | 443 |
| SequenceStatus | complete |
| DateCreated | 2004-07-19 |
| DateModified | 2021-06-02 |
Subcellular Location
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| Subcellular Location |
| Golgi apparatus membrane |
Diseases
Show/Hide Table
| Disease ID | Source | Name | Description |
| 615041 | OMIM | Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A10 (MDDGA10) | An autosomal recessive disorder characterized by congenital muscular dystrophy associated with cobblestone lissencephaly and other brain anomalies, eye malformations, profound mental retardation, and death usually in the first years of life. Included diseases are the more severe Walker-Warburg syndrome and the slightly less severe muscle-eye-brain disease. The disease is caused by variants affecting the gene represented in this entry. |
Interactions
3 interactions