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GALNS / Chondroitinase 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.
Gene Name: | galactosamine (N-acetyl)-6-sulfate sulfatase |
Synonyms: | GALNS, Chondroitinase, Chondroitinsulfatase, GALNAC6S, GalNAc6S sulfatase, GAS, MPS4A, Galactose-6-sulfate sulfatase |
Target Sequences: | NM_000512 NP_000503.1 P34059 |
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