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 |
|---|---|---|---|
| 3373 | HYAL1 | hyaluronidase 1 | |
| 3423 | IDS | iduronate 2-sulfatase | |
| 3425 | IDUA | alpha-L-iduronidase | |
| 3482 | IGF2R | insulin like growth factor 2 receptor | |
| 3988 | LIPA | lipase A, lysosomal acid type | |
| 4125 | MAN2B1 | mannosidase alpha class 2B member 1 | |
| 4126 | MANBA | mannosidase beta | |
| 4669 | NAGLU | N-acetyl-alpha-glucosaminidase | |
| 4758 | NEU1 | neuraminidase 1 | |
| 5305 | PIP4K2A | phosphatidylinositol-5-phosphate 4-kinase type 2 alpha |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P51688 | N-sulphoglucosamine sulphohydrolase | |
| P54646 | 5'-AMP-activated protein kinase catalytic subunit alpha-2 | |
| P54802 | Alpha-N-acetylglucosaminidase | |
| P54803 | Galactocerebrosidase | |
| Q12794 | Hyaluronidase-1 | |
| Q13231 | Chitotriosidase-1 | |
| Q13510 | Acid ceramidase | |
| Q14956 | Transmembrane glycoprotein NMB | |
| Q3T906 | N-acetylglucosamine-1-phosphotransferase subunits alpha/beta | |
| Q5FYB1 | Arylsulfatase I |
