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
lysosomal storage disease
Summary
- Synonym
-
- disorder of lysosomal enzyme
- inborn lysosomal enzyme disorder
- lysosomal storage metabolism disorder
- Definition
- An inherited metabolic disorder that involve an abnormal accumulation of substances inside the lysosome resulting from defects in lysosomal function.
- Super Class
- inherited metabolic disorder
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 5476 | CTSA | cathepsin A | |
| 5538 | PPT1 | palmitoyl-protein thioesterase 1 | |
| 5563 | PRKAA2 | protein kinase AMP-activated catalytic subunit alpha 2 | |
| 5660 | PSAP | prosaposin | |
| 6448 | SGSH | N-sulfoglucosamine sulfohydrolase | |
| 6476 | SI | sucrase-isomaltase | |
| 6609 | SMPD1 | sphingomyelin phosphodiesterase 1 | |
| 8972 | MGAM | maltase-glucoamylase | |
| 9896 | FIG4 | FIG4 phosphoinositide 5-phosphatase | |
| 10457 | GPNMB | glycoprotein nmb |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q6UWY0 | Arylsulfatase K | |
| Q8NBK3 | Formylglycine-generating enzyme | |
| Q92562 | Polyphosphoinositide phosphatase | |
| Q96EG1 | Arylsulfatase G | |
| Q99519 | Sialidase-1 | |
| Q9NRA2 | Sialin | |
| Q9UJJ9 | N-acetylglucosamine-1-phosphotransferase subunit gamma |
