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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 |
|---|---|---|---|
| 410 | ARSA | arylsulfatase A | |
| 912 | CD1D | CD1d molecule | |
| 929 | CD14 | CD14 molecule | |
| 1116 | CHI3L1 | chitinase 3 like 1 | |
| 1118 | CHIT1 | chitinase 1 | |
| 1636 | ACE | angiotensin I converting enzyme | |
| 2215 | FCGR3B | Fc gamma receptor IIIb | |
| 2581 | GALC | galactosylceramidase | |
| 2629 | GBA1 | glucosylceramidase beta 1 | |
| 2717 | GLA | galactosidase alpha |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| O43451 | Maltase-glucoamylase | |
| O60502 | Protein O-GlcNAcase | |
| O60656 | UDP-glucuronosyltransferase 1A9 | |
| O75015 | Low affinity immunoglobulin gamma Fc region receptor III-B | |
| P04062 | Lysosomal acid glucosylceramidase | |
| P06280 | Alpha-galactosidase A | |
| P06865 | Beta-hexosaminidase subunit alpha | |
| P07602 | Prosaposin | |
| P08571 | Monocyte differentiation antigen CD14 | |
| P12821 | Angiotensin-converting enzyme |
