LSDDB

A currative database for lysosomal storage disorder

Sphingolipidoses

Enzyme/Protein Disease Gene location Gene OMIM UniProt
α-Galactosidase A Fabry Xq22.1 GLA 300644 P06280
Acid ceramidase Farber lipogranulomatosis 8q22 ASAH1 228000 Q13510
β-Galactosidase GM1 gangliosidosis 3p21.33 GLB1 230500 P16278
β-Hexosaminidase β-subunit GM2-gangliosidosis (Sandhoff) 5q13.3 HEXB 268800 P07686
Glucocerebrosidase Gaucher disease 1q22 GBA 230800 P04062
β-Galactosylceramidase Globoid cell leukodystrophy (Krabbe disease) 14q.31.3 GALC 245200 P54803
Arylsulfatase A Metachromatic luekodystrophy 2q13.33 ARSA 250100 P15289
Sphingomyelin phosphodiesterase Niemann Pick type A and B 11p15.4 SMPD1 257200 P17405

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