Protein Name galactosamine (N-acetyl)-6-sulfatase
Organism Homo sapiens
Gene ID 2588
Gene Symbol

GALNS

UniProt P34059 (GALNS_HUMAN), Q6YL38 (Q6YL38_HUMAN), Q96I49 (Q96I49_HUMAN)
Relationships Total Number of functionally related compound(s) : 206
Total Number of Articles : 193
Description

galactosamine (N-acetyl)-6-sulfatase

Gene Summary

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]

synonyms
  • N-acetylgalactosamine-6-sulfatase
  • N-acetylgalactosamine-6-sulfate sulfatase
  • chondroitinase
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Properties