NEU1 (NP_000425, 334 a.a. ~ 415 a.a) partial recombinant protein with GST tag. The sequence is NPAHPEFRVNLTLRWSFSNGTSWRKETVQLWPGPSGYSSLATLEGSMDGEEQAPQLYVLY EKGRNHYTESISVAKISVYGTL
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.
Pathway
Asparagine N-linked glycosylation; Glycosphingolipid metabolism; Lysosome; Metabolism of lipids and lipoproteins
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