Protein-coding gene in the species Homo sapiens
Sialidase-1 , is a mammalian lysosomal neuraminidase enzyme which in humans is encoded by the NEU1 gene .[ 5] [ 6]
The protein SIALIDASE-1 encoded by the NEU-1 gene encodes the lysosomal enzyme SIALIDASE-1, which 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 also referred to as 'protective protein'). Mutations in this gene can lead to sialidosis .[ 5]
Clinical significance [ edit ] Mutations in NEU1 leads to sialidosis , a rare lysosomal storage disease .[ 7] [ 8]
NEU1 has been shown to interact with Cathepsin A .[ 9]
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