Gene Symbol | NEU1 |
Entrez Gene ID | 4758 |
Full Name | neuraminidase 1 |
Synonyms | NANH,NEU,SIAL1 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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]. |
Disorder MIM: | |
Disorder Html: | Sialidosis, type I, 256550 (3); Sialidosis, type II, 256550 (3) |