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NEU1 is a lysosomal enzyme, 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. Mutations in NEU1 gene can lead to sialidosis.The protein encoded by this gene encodes the lysosomal enzyme, 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.
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蛋白别名: Acetylneuraminyl hydrolase; EC 3.2.1.18; exo-alpha-sialidase; FLJ93471; G9 sialidase; Lysosomal sialidase; N-acetyl-alpha-neuraminidase 1; sialidase 1 (lysosomal sialidase); Sialidase-1
基因别名: NANH; NEU; NEU1; SIAL1
UniProt ID: (Human) Q99519
Entrez Gene ID: (Human) 4758