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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 |
|---|---|---|---|
| 10724 | OGA | O-GlcNAcase | |
| 22901 | ARSG | arylsulfatase G | |
| 26503 | SLC17A5 | solute carrier family 17 member 5 | |
| 79158 | GNPTAB | N-acetylglucosamine-1-phosphate transferase subunits alpha and beta | |
| 84572 | GNPTG | N-acetylglucosamine-1-phosphate transferase subunit gamma | |
| 153642 | ARSK | arylsulfatase family member K | |
| 285362 | SUMF1 | sulfatase modifying factor 1 | |
| 340075 | ARSI | arylsulfatase family member I |
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 |
