The product of this gene is a lysosomal enzyme found in all cells. It is involved in the catabolism of heparin, heparan sulphate, and keratan sulphate. Deficiency of this enzyme results in the accumulation of undegraded substrate and the lysosomal storage disorder mucopolysaccharidosis type IIID (Sanfilippo D syndrome). Mucopolysaccharidosis type IIID is the least common of the four subtypes of Sanfilippo syndrome. [provided by RefSeq, Jul 2008]
| SKU | Test Kits | Buffer | Dye Color | Order Now |
|---|---|---|---|---|
| GNSBA-20-REGO | 20 (40 μL) | 200 μL |
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| GNSBA-20-REGR | 20 (40 μL) | 200 μL |
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| GNSBA-20-ORGR | 20 (40 μL) | 200 μL |
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| GNSBA-20-GOGR | 20 (40 μL) | 200 μL |
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| GNSBA-20-GRRE | 20 (40 μL) | 200 μL |
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| GNSBA-20-GROR | 20 (40 μL) | 200 μL |
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| GNSBA-20-GRGO | 20 (40 μL) | 200 μL |
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| GNSBA-20-AQOR | 20 (40 μL) | 200 μL |
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The product of this gene is a lysosomal enzyme found in all cells. It is involved in the catabolism of heparin, heparan sulphate, and keratan sulphate. Deficiency of this enzyme results in the accumulation of undegraded substrate and the lysosomal storage disorder mucopolysaccharidosis type IIID (Sanfilippo D syndrome). Mucopolysaccharidosis type IIID is the least common of the four subtypes of Sanfilippo syndrome. [provided by RefSeq, Jul 2008]
Gene Symbol : GNS
Gene Name : Glucosamine (N-acetyl)-6-sulfatase
Chromosome : CHR 12: 647,594,45-647,134,41
Locus : 12q14.3
Alt. Genes : MKRN3-AS1
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