A currative database for lysosomal storage disorder
Enzyme/Protein | Disease | Gene location | Gene | OMIM | UniProt |
Glycosylasparaginase | Aspartylglucosaminuria | 4q34.3 | AGA | 208400 | P20933 |
α-Fucosidase | Fucosidosis | 1q36.11 | FUCA1 | 230000 | P04066 |
α-Mannosidase | α-Mannosidosis | 19p13.13 | MAN2B1 | 248500 | O00754 |
β-Mannosidase | β-Mannosidosis | 4q24 | MANBA | 248510 | O00462 |
α-N-Acetylgalactosaminidase | Schindler disease | 22q13.2 | NAGA | 104170 | P17050 |
α-Sialidase | Sialidosis | 6p21.33 | NEU1 | 256550 | Q99519 |