help  | about  | cite  | software

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,
  • TMEM76,
  • TMEM76,
  • HGNC:26527,
  • FLJ32731,
  • NM_152419
  • identifiers:
  • 138050,
  • ENSG00000165102,

Genome feature

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

Uni Prot Comments Displayer

Protein Atlas Displayer

Gene Expression Atlas Tissues Displayer

Gene Expression Atlas Diseases Displayer

Publication Counts Displayer

Curated Proteins Displayer


Gene Ontology Displayer

Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]


J Browse Displayer

Gene Structure Displayer

Overlapping Features Displayer

Mouse Alleles Displayer

Gene --> Chromosomal location.

Gene --> GO terms.

Gene --> Overlapping genes.


Gene --> Proteins.


Gene Report --> GWAS hit


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]


Homologue Displayer


Cytoscape Network Displayer

Gene --> Physical and Genetic Interactions


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

Gene Ontology

Gene --> GO terms.



3753 SN Ps

4 Cross References

18 Data Sets

3 Homologues

0 Located Features

97 Rna Seq Results