Table 2. The mucolipidoses and oligosaccharidoses, associated genes and enzymes.
| Disease | Gene | Encoded protein |
|---|---|---|
| Mucolipidosis I (Sialidosis) | NEU1 | α-neuraminidase |
| Mucolipidosis II/III | GNPTAB, GNPTG | UDP-N-acetylglucosamine- 1-phosphotransferase |
| Mucolipidosis IV | MCOLN1 | Mucolipin-1 |
| α-mannosidosis | MAN2B1 | α-mannosidase |
| β-mannosidosis | MANBA | β -mannosidase |
| Fucosidosis | FUCA1 | Fucosidase |
| Galactosialidosis | CTSA | Cathepsin A |
| Salla disease | SLC17A5 | Sialin |
| Infantile sialic acid storage disease | SLC17A5 | Sialin |
| Aspartylglucosaminuria | AGA | Aspartylglucosaminidase |
| Schindler disease | NAGA | α-N-acetylgalactosaminidase |