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Gene : ARSB Homo sapiens

Name  ? arylsulfatase B Cytological Location  5q14.1
Brief Description  arylsulfatase B
Description  Arylsulfatase B encoded by this gene belongs to the sulfatase family. The arylsulfatase B homodimer hydrolyzes sulfate groups of N-Acetyl-D-galactosamine, chondriotin sulfate, and dermatan sulfate. The protein is targeted to the lysozyme. Mucopolysaccharidosis type VI is an autosomal recessive lysosomal storage disorder resulting from a deficiency of arylsulfatase B. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Dec 2016]
  • synonyms:
  • ASB,
  • M32373,
  • OTTHUMG00000108129,
  • G4S,
  • MPS6,
  • HGNC:714,
  • NM_000046,
  • uc003kfq.5,
  • ARSB
  • identifiers:
  • 411,
  • ENSG00000113273,
  • ARSB

Genome feature

Region: gene ? Length: 208879  
Location: 5:78777209-78986087 reverse strand Cyto location: 5q14.1


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Function

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Genomics

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Proteins

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SNPs

Gene Report --> GWAS hit

Disease

1 Diseases

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

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Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Homology

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Interactions

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Expression

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Other

3756 SN Ps

5 Cross References

20 Data Sets

5 Homologues

0 Located Features

97 Rna Seq Results