Gene

ARSL

Species
Homo sapiens
Symbol
ARSL
Name
arylsulfatase L
Synonyms
  • ARSE
  • arylsulfatase E
Biotype
protein coding gene
Automated Description
Enables arylsulfatase activity. Predicted to be involved in skeletal system development. Located in Golgi apparatus. Implicated in X-linked chondrodysplasia punctata 1 and chondrodysplasia punctata.
RGD 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]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR42693
Links to orthology data in JBrowse by filter level: Stringent,  Moderate,  No filter,  Best and Best Reverse

Paralogy

Function - GO Annotations

Pathways

No data available

Phenotypes

Primary Sources
None
Other Sources

Disease Associations

Cases where the expected disease association was NOT found
Cell color indicative of annotation volume

Transgenic Alleles

Models

Sequence Feature Viewer

Genome location
Assembly version
GRCh38
Viewer Help
2.935M2.940M2.945M2.950M2.955M2.960M2.965M

Sequence Details

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Expression

Primary Sources
None
Other Sources
Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.

Molecular Interactions

Genetic Interactions