Enzyme/Protein,Disease,Gene location,Gene,OMIM,UniProt GM2 activator protein,GM2 gangliosidosis (AB Variant),5q31,GM2A,272750,P17900 Saposin A,Krabbe disease,10q22.2,PSAP,611722,P07602 Acetyl-Co A α-glucosaminidase acetyltransferase,Sanfilippo C,8p11.21-11.1,HGSNAT,252930,Q68CP4 Saposin B,Metachromatic leukodystrophy,10q22.1,PSAP,249900,P07603 Saposin C,Gaucher disease (Atypical),10q22.1,PSAP,610539,P07604