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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,
  • Sanfilippo disease IIID,
  • G6S,
  • N-acetylglucosamine-6-sulfatase,
  • HGNC:4422,
  • NM_002076,
  • OTTHUMG00000168819,
  • GNS
  • identifiers:
  • 2799,
  • ENSG00000135677,
  • GNS

Genome feature

Region: gene ? Length: 45958  
Location: 12:64713449-64759406 reverse strand Cyto location: 12q14.3


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Function

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Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

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Gene --> Chromosomal location.

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Proteins

Gene --> Proteins.

SNPs

Gene Report --> GWAS hit

Disease

1 Diseases

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

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Homology

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Interactions

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Expression

Gene(s) --> Significant SNPs (GTex data)

Gene Ontology

Gene --> GO terms.

 

Other

3753 SN Ps

5 Cross References

19 Data Sets

4 Homologues

0 Located Features

97 Rna Seq Results