A currative database for lysosomal storage disorder
| Enzyme/Protein | Disease | Gene location | Gene | OMIM | UniProt | GM2 activator protein | GM2 gangliosidosis (AB Variant) | 5q31 | GM2A | 272750 | P17900 |
| Saposin A | Krabbe disease | 10q22.2 | PSAP | 611722 | P07602 |
| Acetyl-Co A α-glucosaminidase acetyltransferase | Sanfilippo C | 8p11.21-11.1 | HGSNAT | 252930 | Q68CP4 |
| Saposin B | Metachromatic leukodystrophy | 10q22.1 | PSAP | 249900 | P07603 |
| Saposin C | Gaucher disease (Atypical) | 10q22.1 | PSAP | 610539 | P07604 |