A currative database for lysosomal storage disorder
Enzyme/Protein | Disease | Gene location | Gene | OMIM | UniProt | α-L-Iduronidase | MPS 1 (Hurler, Scheie) | 4p16.3 | IDUA | 252800 | P35475 |
Iduronate sulfatase | MPS II (Hunter syndrome) | Xq28 | IDS | 309900 | P22304 |
Heparan Sulfaminidase | MPS IIIa (Sanfilippo A) | 17q25.3 | SGSH | 252900 | P51688 |
N-acetyl glucosaminidase | MPS IIIb (Sanfilippo B) | 17q21.1 | NAGLU | 252920 | P54802 |
Acetyl-Co A α-glucosaminidase acetyltransferase | MPS IIIc (Sanfilippo C) | 8p11.21-11.1 | HGSNAT | 252930 | Q68CP4 |
N-acetylglucosamine 6-sulfatase | MPS IIId (Sanfilippo D) | 12q14.3 | GLB1 | 253010 | P16278 |
Arylsulfatase B (β-N-acetylgalactosamine 4-sulfatase) | MPS VI (Maroteaux-Lamy syndrome) | 5q14.1 | ARSB | 253200 | P15848 |
β-glucuronidase | MPS VII (Sly) | 7q11.21 | GUSB | 253220 | P08236 |
Hyaluronidase | MPS IX (Natowicz syndrome) | 3p21.31 | HYAL1 | 607071 | Q12794 |