LSDDB

A currative database for lysosomal storage disorder

Post Translational Defect

Enzyme/Protein Disease Gene location Gene OMIM UniProt
Formyl-Glycine generating enzyme Multiple sulfatase deficiency 3p26.1 SUMF1 272200 Q8NBK3
N-acetyl glucosaminidase Sanfilippo B 17q21.1 NAGLU 252910 P54802

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