This gene encodes N-acetylgalactosamine-6-sulfatase which is a lysosomal exohydrolase required for the degradation of the glycosaminoglycans, keratan sulfate, and chondroitin 6-sulfate. Sequence alterations including point, missense and nonsense mutations, as well as those that affect splicing, result in a deficiency of this enzyme. Deficiencies of this enzyme lead to Morquio A syndrome, a lysosomal storage disorder. [provided by RefSeq, Jul 2008]
| SKU | Test Kits | Buffer | Dye Color | Order Now |
|---|---|---|---|---|
| GALNS-20-RE | 20 (40 μL) | 200 μL |  |
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| GALNS-20-OR | 20 (40 μL) | 200 μL |  |
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| GALNS-20-GO | 20 (40 μL) | 200 μL |  |
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| GALNS-20-GR | 20 (40 μL) | 200 μL |  |
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| GALNS-20-AQ | 20 (40 μL) | 200 μL |  |
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This gene encodes N-acetylgalactosamine-6-sulfatase which is a lysosomal exohydrolase required for the degradation of the glycosaminoglycans, keratan sulfate, and chondroitin 6-sulfate. Sequence alterations including point, missense and nonsense mutations, as well as those that affect splicing, result in a deficiency of this enzyme. Deficiencies of this enzyme lead to Morquio A syndrome, a lysosomal storage disorder. [provided by RefSeq, Jul 2008]
Gene Symbol : GALNS
Gene Name : Galactosamine (N-acetyl)-6-sulfatase
Chromosome : CHR 16: 888,569,69-888,137,33
Locus : 16q24.3
Alt. Genes : ZNF263
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