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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:
  • ARSA,
  • ASA,
  • X52150,
  • uc021wse.2,
  • NM_000487,
  • OTTHUMG00000150180,
  • HGNC:713,
  • MLD,
  • metachromatic leucodystrophy
  • identifiers:
  • 410,
  • ENSG00000100299,
  • ARSA

Genome feature

Region: gene ? Length: 5420  
Location: 22:50622754-50628173 reverse strand Cyto location: 22q13.33


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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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Gene --> GO terms.

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Proteins

Gene --> Proteins.

SNPs

Gene Report --> GWAS hit

Disease

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]

Homology

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Interactions

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Expression

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

Gene Ontology

Gene --> GO terms.

 

Other

2011 SN Ps

5 Cross References

20 Data Sets

10 Homologues

0 Located Features

90 Rna Seq Results