Entity Details
| Primary name |
GT251_HUMAN |
| Entity type |
UniProt |
| Source |
Source Link |
Details
| Accession | Q8NBJ5 |
| EntryName | GT251_HUMAN |
| FullName | Procollagen galactosyltransferase 1 |
| TaxID | 9606 |
| Evidence | evidence at protein level |
| Length | 622 |
| SequenceStatus | complete |
| DateCreated | 2007-12-04 |
| DateModified | 2021-06-02 |
Subcellular Location
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| Subcellular Location |
| Endoplasmic reticulum lumen |
Domains
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| Domain | Name | Category | Type |
| IPR002654 | Glycosyl transferase, family 25 | Family | Family |
| IPR029044 | Nucleotide-diphospho-sugar transferases | Family | Homologous superfamily |
Diseases
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| Disease ID | Source | Name | Description |
| 618360 | OMIM | Brain small vessel disease 3 (BSVD3) | An autosomal recessive form of brain small vessel disease, a cerebrovascular disorder with variable manifestations reflecting the location and severity of the vascular defect. BSVD3 patients may have disease onset in utero or early infancy with subsequent global developmental delay, spasticity, and porencephaly on brain imaging. Other patients may have normal or mildly delayed development with sudden onset of intracranial hemorrhage causing acute neurologic deterioration. The disease is caused by variants affecting the gene represented in this entry. |
Interactions
1 interaction