LSDDB

A currative database for lysosomal storage disorder

Neuronal ceroid lipofuscinosis (CLN)

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

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