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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
sphingolipidosis
Summary
- Synonym
-
- sphingolipidoses
- Definition
- A lipid storage disease characterized by functional deficiencies in the enzymes needed for lysosomal degradation of sphingolipid substrates.
- Super Class
- lipid storage disease
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 410 | ARSA | arylsulfatase A | |
| 427 | ASAH1 | N-acylsphingosine amidohydrolase 1 | |
| 1118 | CHIT1 | chitinase 1 | |
| 1583 | CYP11A1 | cytochrome P450 family 11 subfamily A member 1 | |
| 2581 | GALC | galactosylceramidase | |
| 2629 | GBA1 | glucosylceramidase beta 1 | |
| 2717 | GLA | galactosidase alpha | |
| 2720 | GLB1 | galactosidase beta 1 | |
| 3425 | IDUA | alpha-L-iduronidase | |
| 5660 | PSAP | prosaposin |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q13231 | Chitotriosidase-1 | |
| Q92484 | Cyclic GMP-AMP phosphodiesterase SMPDL3A |
