Entrez gene ID | | 4758 |
Official gene symbol | | NEU1 |
Full name | | sialidase 1 (lysosomal sialidase) |
Aliases | | ,FLJ93471,NANH,NEU,SIAL1, |
Gene summary | | 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] |
Location | | Chromosome: 6 Locus: 6p21.3 |
Gene position | | 31830709 - 31826829 Map Viewer |
Gene orientation | | minus |
Gene size | | 3881 bp |
Gene sequence |
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OMIM ID | | 608272 |
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