NEU1

The encoded protein is a lysosomal neuraminidase that cleaves terminal sialic acid residues from glycoproteins and glycolipids as part of a multienzyme complex with beta-galactosidase and cathepsin A. Mutations cause sialidosis, an autosomal recessive lysosomal storage disease with two forms: type I (late-onset cherry red spot-myoclonus syndrome) and type II (early-onset dysmorphic type with increased severity). The gene shows low constraint to loss-of-function variation, consistent with its recessive inheritance pattern.