A currative database for lysosomal storage disorder
Enzyme/Protein | Disease | Gene location | Gene | OMIM | UniProt | Palmitoyl thioesterase | CLN1 (Infantile NCL) | 1p34.1 | PPT1 | 256730 | P50897 |
Pepstatin-sensitive protease | CLN2 (Classic late infantile) | 11q15.4 | TPP1 | 204500 | O14773 |
Battenin | CLN3 (Ceroid lipofuscinosis) | 16p12.1 | CLN3 | 204200 | Q13286 |
Ceroid-lipofuscinosis neuronal protein 4 | Adult NCL (CLN4) | 20q13.33 | DNAJC5 | 162350 | Q9H3Z4 |
Ceroid-lipofuscinosis neuronal protein 5 | Late infantile, Finnish variant (CLN5) | 13q22.3 | CLN5 | 256731 | O75503 |
Endoplasmic reticulum transmembrabe protein | Ceroid lipofuscinosis 6 (CLN6) | 15q23 | CLN6 | 601780 | Q9NWW5 |
Major facilitator superfamily domain-containing protein 8 | Late infantile, Turkish variant (CLN 7) | 4q28.2 | MFSD8 | 610951 | Q8NHS3 |
Transmembrane protein | Ceroid lipofuscinosis 8 (CLN 8) | 8p23.3 | CLN8 | 600143 | Q9UBY8 |
CLN9 | Juvenile variant (CLN9) | 3p21.31 | CLN9 | Cathepsin D | Congenital NCL (CLN10) | 11p15.5 | CTSD | 610127 | P07339 |