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neu1

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Official Full Name
sialidase 1 (lysosomal sialidase)
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. [provided by RefSeq, Jul 2008]
Synonyms
NEU1; sialidase 1 (lysosomal sialidase); NEU; NANH; SIAL1; sialidase-1; G9 sialidase; exo-alpha-sialidase; lysosomal sialidase; acetylneuraminyl hydrolase; N-acetyl-alpha-neuraminidase 1; FLJ93471; neuraminidase 1; si:ch211-222e23.1