| Protein Name | neuraminidase 1 |
|---|---|
| Organism | Homo sapiens |
| Gene ID | 4758 |
| Gene Symbol | NEU1 |
| UniProt | Q99519 (NEUR1_HUMAN), Q5JQI0 (Q5JQI0_HUMAN) |
| Relationships |
Total Number of functionally related compound(s) :
811
Total Number of Articles : 1749 |
Description |
neuraminidase 1 |
| 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, Jul 2008] |
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| Properties | |