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Literature summary for 3.2.1.22 extracted from
- Fabry disease: correlation between structural changes in alpha-galactosidase, and clinical and biochemical phenotypes (2005), Hum. Genet., 117, 317-328.
Application
| Application | Comment | Organism |
|---|---|---|
| medicine | Fabry disease is an X-linked genetic disorder resulting from a deficiency of alpha-galactosidase activity. Correlation of structural changes and clinical and biochemical phenotypes is demonstrated. Structural investigation is useful for elucidating the bases of Fabry disease and clinical treatment | Homo sapiens |
Natural Substrates/ Products (Substrates)
| Natural Substrates | Organism | Comment (Nat. Sub.) | Natural Products | Comment (Nat. Pro.) | Rev. | Reac. |
|---|---|---|---|---|---|---|
| additional information | Homo sapiens | Fabry disease is an X-linked genetic disorder resulting from a deficiency of alpha-galactosidase activity | ? | - |
? |  |
Organism
| Organism | UniProt | Comment | Textmining |
|---|---|---|---|
| Homo sapiens | P06280 | - |
- |
Substrates and Products (Substrate)
| Substrates | Comment Substrates | Organism | Products | Comment (Products) | Rev. | Reac. |
|---|---|---|---|---|---|---|
| additional information | Fabry disease is an X-linked genetic disorder resulting from a deficiency of alpha-galactosidase activity | Homo sapiens | ? | - |
? | |
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Release 2023.1 (January 2023)
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