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Reconstitute with 0.2 mL of distilled water to yield a concentration of 500 µg/mL.
This 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.
仅用于科研。不用于诊断过程。未经明确授权不得转售。
蛋白别名: Chondroitinase; Chondroitinsulfatase; galactosamine (N-acetyl)-6-sulfate sulfatase; Galactose-6-sulfate sulfatase; GalN6S; GalNAc6S sulfatase; N-acetylgalactosamine-6-sulfatase; N-acetylgalactosamine-6-sulfate sulfatase
基因别名: GalN6S; GALNAC6S; GALNS; GAS; mFLJ00319; MPS4A
UniProt ID: (Human) P34059, (Mouse) Q571E4, (Rat) Q32KJ6
Entrez Gene ID: (Human) 2588, (Mouse) 50917, (Rat) 292073