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Gene : GNS Homo sapiens

Name  ? glucosamine (N-acetyl)-6-sulfatase Cytological Location  12q14.3
Brief Description  glucosamine (N-acetyl)-6-sulfatase
description  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]
  • synonyms:
  • uc001ssg.5,
  • OTTHUMG00000168819,
  • Sanfilippo disease IIID,
  • N-acetylglucosamine-6-sulfatase,
  • GNS,
  • NM_002076,
  • G6S,
  • HGNC:4422
  • identifiers:
  • 2799,
  • ENSG00000135677,
  • GNS

Genome feature

Region: gene ? Length: 46005  
Location: 12:64713442-64759446 reverse strand Cyto location: 12q14.3


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Proteins

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SNPs

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Disease

1 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Mouse Gene --> Allele [Phenotype]

Homology

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Expression

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Other

931 SN Ps

5 Cross References

19 Data Sets

7 Homologues

0 Located Features

90 Rna Seq Results