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Please note: We are reviewing Western blot images included in the antibody testing data in our catalog, including those provided by third parties. Unless expressly labeled or annotated as “raw-unedited”, Western blot images included in the antibody testing data in our catalog may have been edited, optimized or otherwise adjusted for presentation.
Antibody detects endogenous levels of total GALNS.
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: GALNS; mFLJ00319
UniProt ID: (Mouse) Q571E4, (Rat) Q32KJ6
Entrez Gene ID: (Mouse) 50917, (Rat) 292073