Homo sapiens galactosamine (N-acetyl)-6-sulfate sulfatase (GALNS)
GALNAC6S; GAS; MPS4A
Peptide with sequence C-TTHNLEDHTKLP, from the internal region of the protein sequence according to NP_000503.1.
Supplied at 0.5 mg/ml in Tris saline, 0.02% sodium azide, pH7.3 with 0.5% bovine serum albumin.
Purified from goat serum by ammonium sulphate precipitation followed by antigen affinity chromatography using the immunizing peptide. Supplied at 0.5 mg/ml in Tris saline, 0.02% sodium azide, pH7.3 with 0.5% bovine serum albumin. Aliquot and store at -20°C. Minimize freezing and thawing. (Protein A or G Sepharose)
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ELISA: 1:64,000. WB: 0.01-0.03µg/ml.
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].
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