Entrez gene ID | | 2799 |
Official gene symbol | | GNS |
Full name | | glucosamine (N-acetyl)-6-sulfatase |
Aliases | | ,G6S,MGC21274, |
Gene summary | | The product of this gene is a lysosomal enzyme found in all cells. It is involved in the catabolism of heparin, heparan sulphate, and keratan sulphate. Deficiency of this enzyme results in the accumulation of undegraded substrate and the lysosomal storage disorder mucopolysaccharidosis type IIID (Sanfilippo D syndrome). Mucopolysaccharidosis type IIID is the least common of the four subtypes of Sanfilippo syndrome. [provided by RefSeq] |
Location | | Chromosome: 12 Locus: 12q14 |
Gene position | | 65153226 - 65107222 Map Viewer |
Gene orientation | | minus |
Gene size | | 46005 bp |
Gene sequence |
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OMIM ID | | 607664 |
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