GALNS / Biotin /
Product Details
Description | GALNS (N-acetylgalactosamine-6-sulfatase, Chondroitinsulfatase, Galactose-6-sulfate sulfatase, GAS, MPS4A, GalN6S, GALNAC6S) (Biotin) Pab | |
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Conjugate | Biotin | |
Clone | ||
Target Species | Human | |
Applications | WB, IHC | |
Supplier | US Biological | |
Catalog # | Sign in to view product details, citations, and spectra | |
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About GALNS
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]
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]
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