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Gene : ARSL Homo sapiens

Name  ? arylsulfatase L Cytological Location  Xp22.33
Brief Description  arylsulfatase L
Description  Arylsulfatase E is a member of the sulfatase family. It is glycosylated postranslationally and localized to the golgi apparatus. Sulfatases are essential for the correct composition of bone and cartilage matrix. X-linked chondrodysplasia punctata, a disease characterized by abnormalities in cartilage and bone development, has been linked to mutations in this gene. Alternative splicing results in multiple transcript variants. A pseudogene related to this gene is located on the Y chromosome. [provided by RefSeq, Sep 2013]
  • synonyms:
  • CDPX,
  • OTTHUMG00000137358,
  • ARSL,
  • CDPX1,
  • CDPX,
  • HGNC:719,
  • CDPXR,
  • NM_000047,
  • ASE,
  • ARSE,
  • ARSE,
  • arylsulfatase E,
  • chondrodysplasia punctata 1,
  • CDPX1,
  • X83573,
  • uc004crc.5,
  • arylsulfatase E (chondrodysplasia punctata 1)
  • identifiers:
  • 415,
  • ENSG00000157399,
  • ARSL

Genome feature

Region: gene ? Length: 33725  
Location: X:2934521-2968245 reverse strand Cyto location: Xp22.33


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Proteins

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SNPs

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Disease

1 Diseases

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

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Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

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Expression

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Other

653 SN Ps

5 Cross References

19 Data Sets

1 Homologues

0 Located Features

97 Rna Seq Results