Entity Details
| Primary name |
B3GL2_HUMAN |
| Entity type |
UniProt |
| Source |
Source Link |
Details
| Accession | Q8NCR0 |
| EntryName | B3GL2_HUMAN |
| FullName | UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 2 |
| TaxID | 9606 |
| Evidence | evidence at protein level |
| Length | 500 |
| SequenceStatus | complete |
| DateCreated | 2006-09-05 |
| DateModified | 2021-06-02 |
Subcellular Location
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| Subcellular Location |
| Endoplasmic reticulum |
| Golgi apparatus membrane |
Domains
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| Domain | Name | Category | Type |
| IPR002659 | Glycosyl transferase, family 31 | Family | Family |
Diseases
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| Disease ID | Source | Name | Description |
| 615181 | OMIM | Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A11 (MDDGA11) | 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
1 interaction