Background：

The protein encoded by this gene 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 beta-galactosidase and cathepsin A (the latter is also referred to as ’protective protein’). Mutations in this gene can lead to sialidosis， a lysosomal storage disease that can be type 1 (cherry red spot-myoclonus syndrome or normosomatic type)， which is late-onset， or type 2 (the dysmorphic type)， which occurs at an earlier age with increased severity.