DescriptionThis gene encodes N-acetylgalactosamine-6-sulfatase whichis a lysosomal exohydrolase required for the degradation of theglycosaminoglycans, keratan sulfate, and chondroitin 6-sulfate.Sequence alterations including point, missense and nonsensemutations, as well as those that affect splicing, result in adeficiency of this enzyme. Deficiencies of this enzyme lead toMorquio A syndrome, a lysosomal storage disorder.
|Immunohistochemistry (Paraffin), Western Blot|
|Human, Mouse, Rat|
|PBS with 50% glycerol and 0.02% sodium azide; pH 7.3|
|Antigen Affinity Chromatography|
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