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Gene : HGSNAT Homo sapiens

Name  ? heparan-alpha-glucosaminide N-acetyltransferase Cytological Location  8p11.21-p11.1
Brief Description  heparan-alpha-glucosaminide N-acetyltransferase
Description  This gene encodes a lysosomal acetyltransferase, which is one of several enzymes involved in the lysosomal degradation of heparin sulfate. Mutations in this gene are associated with Sanfilippo syndrome C, one type of the lysosomal storage disease mucopolysaccaridosis III, which results from impaired degradation of heparan sulfate. [provided by RefSeq, Jan 2009]
  • synonyms:
  • HGNAT,
  • uc003xpx.5,
  • transmembrane protein 76,
  • RP73,
  • MPS3C,
  • OTTHUMG00000164102,
  • HGNAT,
  • HGSNAT,
  • TMEM76,
  • TMEM76,
  • HGNC:26527,
  • FLJ32731,
  • NM_152419
  • identifiers:
  • 138050,
  • ENSG00000165102,
  • HGSNAT

Genome feature

Region: gene ? Length: 62407  
Location: 8:43140449-43202855 Cyto location: 8p11.21-p11.1


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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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Proteins

Gene --> Proteins.

SNPs

Gene Report --> GWAS hit

Disease

2 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

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Other

3753 SN Ps

4 Cross References

18 Data Sets

3 Homologues

0 Located Features

97 Rna Seq Results