Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
All Resources
Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
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 |
|---|---|---|---|
| 2720 | GLB1 | galactosidase beta 1 | |
| 3073 | HEXA | hexosaminidase subunit alpha | |
| 3425 | IDUA | alpha-L-iduronidase | |
| 4121 | MAN1A1 | mannosidase alpha class 1A member 1 | |
| 5048 | PAFAH1B1 | platelet activating factor acetylhydrolase 1b regulatory subunit 1 | |
| 5313 | PKLR | pyruvate kinase L/R | |
| 5538 | PPT1 | palmitoyl-protein thioesterase 1 | |
| 5660 | PSAP | prosaposin | |
| 6476 | SI | sucrase-isomaltase | |
| 6609 | SMPD1 | sphingomyelin phosphodiesterase 1 |
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 |
