Description
NEU1 is a lysosomal enzyme that cleaves terminal sialic acid residues from substrates such as glycoproteins and glycolipids. In the lysosome, this enzyme is part of a heterotrimeric complex together with betagalactosidase and cathepsin A. Mutations in this gene can lead to sialidosis, a lysosomal storage disease that can be type 1 (cherry red -myoclonus syndrome or normosomatic type), which is late-onset, or type 2 (the dysmorphic type), which occurs at an earlier age with increased severity