Entrez gene ID | | 2588 |
Official gene symbol | | GALNS |
Full name | | galactosamine (N-acetyl)-6-sulfate sulfatase |
Aliases | | ,FLJ17434,FLJ42844,FLJ98217,GALNAC6S,GAS,MPS4A, |
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] |
Location | | Chromosome: 16 Locus: 16q24.3 |
Gene position | | 88923374 - 88880142 Map Viewer |
Gene orientation | | minus |
Gene size | | 43233 bp |
Gene sequence |
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OMIM ID | | 612222 |
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