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Gaucher's disease
Summary
- Synonym
-
- Gaucher disease
- acid beta-glucosidase deficiency
- glocucerebrosidase deficiency
- glucosylceramide beta-glucosidase deficiency
- kerasin thesaurismosis
- Definition
- A sphingolipidosis characterized by deficiency of the enzyme glucocerebrosidase which results in the accumulation of harmful quantities of the glycolipid glucocerebroside throughout the body, especially within the bone marrow, spleen and liver.
- Super Class
- sphingolipidosis
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P01375 | Tumor necrosis factor | |
| P04062 | Lysosomal acid glucosylceramidase | |
| P30613 | Pyruvate kinase PKLR |
| UniProt ID | Protein Name | Source |
|---|---|---|
| A0A0G2JDK2 | Glucosylceramidase |
