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. [provided by RefSeq, Jul 2008]
Forensic Context
A study in humans identified CD19 and GPR65 as key sialylation-related genes for predicting sepsis-induced acute respiratory distress syndrome (ARDS), with a nomogram model demonstrating robust predictive capability [Liu et al. DOI:10.3389/fimmu.2025.1528769].