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]
SKU | Test Kits | Buffer | Dye Color | Order Now |
---|---|---|---|---|
NEU1-20-RE | 20 (40 μL) | 200 μL | Request Pricing | |
NEU1-20-OR | 20 (40 μL) | 200 μL | Request Pricing | |
NEU1-20-GO | 20 (40 μL) | 200 μL | Request Pricing | |
NEU1-20-GR | 20 (40 μL) | 200 μL | Request Pricing | |
NEU1-20-AQ | 20 (40 μL) | 200 μL | Request Pricing |
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]
Gene Symbol : NEU1
Gene Name : Neuraminidase 1
Chromosome : CHR 6: 318,629,31-318,590,51
Locus : 6p21.33
Alt. Genes : OPTN
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