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Warehouse
2 Shaker Rd Suites
B001/B101
Shirley, MA 01464
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Floor 6, Suite 620
20700 44th Avenue W
Lynnwood, WA 98036
Telephone Numbers
Tel: +1 (206) 374-1102
Fax: +1 (206) 577-4565
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NEU1 / NEU
sialidase 1 (lysosomal sialidase)
NEU1 / NEU 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.
| Gene Name: | sialidase 1 (lysosomal sialidase) |
| Synonyms: | NEU1, Acetylneuraminyl hydrolase, G9 gene encoding sialidase, G9 sialidase, Exo-alpha-sialidase, Neu, Sialidase-1, Lysosomal sialidase, SIAL1, N-acetyl-alpha-neuraminidase 1, NANH |
| Target Sequences: | NM_000434 NP_000425.1 Q99519 |
Publications (1)
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