A currative database for lysosomal storage disorder
Enzyme/Protein | Disease | Gene location | Gene | OMIM | UniProt |
α-Galactosidase A | Fabry | Xq22.1 | GLA | 300644 | P06280 |
Acid ceramidase | Farber lipogranulomatosis | 8q22 | ASAH1 | 228000 | Q13510 |
β-Galactosidase | GM1 gangliosidosis | 3p21.33 | GLB1 | 230500 | P16278 |
β-Hexosaminidase β-subunit | GM2-gangliosidosis (Sandhoff) | 5q13.3 | HEXB | 268800 | P07686 |
Glucocerebrosidase | Gaucher disease | 1q22 | GBA | 230800 | P04062 |
β-Galactosylceramidase | Globoid cell leukodystrophy (Krabbe disease) | 14q.31.3 | GALC | 245200 | P54803 |
Arylsulfatase A | Metachromatic luekodystrophy | 2q13.33 | ARSA | 250100 | P15289 |
Sphingomyelin phosphodiesterase | Niemann Pick type A and B | 11p15.4 | SMPD1 | 257200 | P17405 |