Protein Name | galactosamine (N-acetyl)-6-sulfatase |
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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 |
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Properties | |