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Gene : SGSH Homo sapiens

Name  ? N-sulfoglucosamine sulfohydrolase Cytological Location  17q25.3
Brief Description  N-sulfoglucosamine sulfohydrolase
Description  This gene encodes the enzyme sulfamidase; one of several enzymes involved in the lysosomal degradation of heparan sulfate. Mutations in this gene are associated with the lysosomal storage disease mucopolysaccaridosis IIIA, also known as Sanfilippo syndrome A, which results from impaired degradation of heparan sulfate. Transcripts of varying sizes have been reported but their biological validity has not been determined. [provided by RefSeq, Jun 2017]
  • synonyms:
  • SFMD,
  • mucopolysaccharidosis type IIIA,
  • HSS,
  • MPS3A,
  • SFMD,
  • HGNC:10818,
  • SGSH,
  • HSS,
  • NM_000199,
  • MPS3A,
  • uc002jxz.5,
  • OTTHUMG00000177569,
  • BC047318,
  • sulfamidase
  • identifiers:
  • 6448,
  • ENSG00000181523,
  • SGSH

Genome feature

Region: gene ? Length: 19666  
Location: 17:80200668-80220333 reverse strand Cyto location: 17q25.3

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Gene -> HPO annotation (Human Phenotype Ontology)

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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]


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3756 SN Ps

5 Cross References

19 Data Sets

7 Homologues

0 Located Features

97 Rna Seq Results