Gene | Phenotype | Protein product | Pathway | Reference |
---|---|---|---|---|
ARSB | Maroteaux-Lamy syndrome | Arysulfatase B | Mucopolysaccharide metabolism | |
ASAH1 | Farber lipogranulomatosis | N-acylsphingosine amidohydrolase | Sphingolipid metabolism | |
CTSD | Neuronal ceroid lipofuscinoses 10 | Cathepsin D | Sphingolipid metabolism | |
GALC | Krabbe disease | Galactosylceramidase | Sphingolipid metabolism | |
GBA | Gaucher disease | Glucocerebosidase | Sphingolipid metabolism | |
GRNa | Neuronal ceroid lipofuscinoses 11 | Progranulin | Unknown lysosomal function | |
GUSB | Mucopolysaccharidosis VII | β-glucuronidase | Mucopolysaccharide metabolism | |
MCOLN1 | Mucolipidosis IV | Mucolipin-1 | Mucolipid metabolism | |
NAGLU | Sanfilippo syndrome B | α-N-acetylglucosminidase | Mucopolysaccharide metabolism | |
NEU1 | Mucolipidosis I (Sialidosis) | α-neuraminidase | Mucolipid metabolism | |
NPC1/NPC2 | Niemann-Pick disease type C | NPC intracellular cholesterol transporter 1/2 | Cholesterol trafficking | |
SCARB2 | Action myoclonus-renal failure syndrome | Lysosomal integral membrane protein 2 | Lysosomal targeting of glucosylceramidase | |
SLC17A5 | Salla disease, infantile sialic acid storage disorder | Sialin | Mucolipid metabolism | |
SMDP1 | Niemann-Pick disease type A/B | Acid sphingomyelinase | Sphingolipid metabolism |