Enzyme/Protein,Disease,Gene location,Gene,OMIM,UniProt
Cystinosin (cystin transport),Cystinosis,17p13.2,CTNS,606272,O60931
Sialin (sialic acid transport),Salla disease,6q13,SLC17A5,604322,Q9NRA2 
Niemann-Pick C1 protein (NPC1),Niemann Pick type C,18q11.2,NPC1,607623,O15118 
Lysosome-associated membrane protein 2 (LAMP-2),Danon,Xq24,LAMP2,309060,P13473
Phosphotransferase γ-subunit,Mucolipidosis III (I-cell disease),16p13.3,GNPTG,607838,Q9UJJ9
Mucolipin-1(cation channel),Mucolipidosis IV,19p13.2,MCOLN1,605248,Q9GZU1
Lysosomal-trafficking regulator (LYST),Chediak-Higashi syndrome,1q42.3,LYST,606897,Q99698
AP3 β-subunit,Hermansky Pudlak 2,5q14.1,AP3B1,603401,O00203
Hyaluronidase,Natowicz syndrome,3p21.31,HYAL1,607071,Q12794