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GNS glucosamine (N-acetyl)-6-sulfatase

Also known as: G6S

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, Jul 2008]

Associated conditions

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DescriptionTests
Mucopolysaccharidosis, MPS-III-D
MedGen: C0086650OMIM: 252940GeneReviews: Not available
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Genomic context

Location:
12q14.3
Sequence:
Chromosome: 12; NC_000012.12 (64713442..64759446, complement)
Total number of exons:
14

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