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Gene : ARSA Homo sapiens

Name  ? arylsulfatase A Cytological Location  22q13.33
Brief Description  arylsulfatase A
Description  The protein encoded by this gene hydrolyzes cerebroside sulfate to cerebroside and sulfate. Defects in this gene lead to metachromatic leucodystrophy (MLD), a progressive demyelination disease which results in a variety of neurological symptoms and ultimately death. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Dec 2010]
  • synonyms:
  • uc021wse.2,
  • metachromatic leucodystrophy,
  • X52150,
  • ARSA,
  • MLD,
  • ASA,
  • OTTHUMG00000150180,
  • HGNC:713,
  • NM_000487
  • identifiers:
  • 410,
  • ENSG00000100299,
  • ARSA

Genome feature

Region: gene ? Length: 5399  
Location: 22:50622754-50628152 reverse strand Cyto location: 22q13.33

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Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]


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

Gene Ontology

Gene --> GO terms.



3740 SN Ps

5 Cross References

19 Data Sets

3 Homologues

0 Located Features

97 Rna Seq Results