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Literature summary for 3.2.1.18 extracted from
- Sialidosis type I carrying V217M/G243R mutations in lysosomal sialidase: an autopsy study demonstrating terminal sialic acid in lysosomal lamellar inclusions and cerebellar dysplasia (2010), Acta Neuropathol., 119, 135-145.
Protein Variants
| Protein Variants | Comment | Organism |
|---|---|---|
| V217M/G243R | the mutation is associated with sialidosis type I phenotype | Homo sapiens |
Localization
| Localization | Comment | Organism | GeneOntology No. | Textmining |
|---|---|---|---|---|
| lysosome | - |
Homo sapiens | 5764 | - |
Organism
| Organism | UniProt | Comment | Textmining |
|---|---|---|---|
| Homo sapiens | - |
- |
- |
Source Tissue
| Source Tissue | Comment | Organism | Textmining |
|---|---|---|---|
| leukocyte | - |
Homo sapiens | - |
Synonyms
| Synonyms | Comment | Organism |
|---|---|---|
| sialidase | - |
Homo sapiens |
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Release 2023.1 (January 2023)
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