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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
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 54579 | UGT1A5 | UDP glucuronosyltransferase family 1 member A5 | |
| 54600 | UGT1A9 | UDP glucuronosyltransferase family 1 member A9 | |
| 54657 | UGT1A4 | UDP glucuronosyltransferase family 1 member A4 | |
| 54658 | UGT1A1 | UDP glucuronosyltransferase family 1 member A1 | |
| 54659 | UGT1A3 | UDP glucuronosyltransferase family 1 member A3 | |
| 57704 | GBA2 | glucosylceramidase beta 2 | |
| 57733 | GBA3 | glucosylceramidase beta 3 (gene/pseudogene) |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P35475 | Alpha-L-iduronidase | |
| P35503 | UDP-glucuronosyltransferase 1A3 | |
| P35504 | UDP-glucuronosyltransferase 1A5 | |
| P36222 | Chitinase-3-like protein 1 | |
| P43034 | Platelet-activating factor acetylhydrolase IB subunit beta | |
| P50897 | Palmitoyl-protein thioesterase 1 | |
| P54803 | Galactocerebrosidase | |
| Q13231 | Chitotriosidase-1 | |
| Q14956 | Transmembrane glycoprotein NMB | |
| Q9H227 | Cytosolic beta-glucosidase |
