Entity Details

Primary name ARSL
Entity type gene
Source Source Link

Details

PrimaryID415
RefseqGeneNG_007091
SymbolARSL
Namearylsulfatase L
ChromosomeX
LocationXp22.33
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1998-08-27
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsARSL_HUMAN

GO terms

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GOName
GO:0001501 skeletal system development
GO:0004065 arylsulfatase activity
GO:0005788 endoplasmic reticulum lumen
GO:0005794 Golgi apparatus
GO:0005795 Golgi stack
GO:0046872 metal ion binding
GO:0070062 extracellular exosome

Diseases

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Disease IDSourceNameDescription
302950 OMIMChondrodysplasia punctata 1, X-linked recessive (CDPX1)A clinically and genetically heterogeneous disorder characterized by punctiform calcification of the bones. CDPX1 is a congenital defect of bone and cartilage development characterized by aberrant bone mineralization, severe underdevelopment of nasal cartilage, and distal phalangeal hypoplasia. This disease can also be induced by inhibition with the drug warfarin. The disease is caused by variants affecting the gene represented in this entry.

Interactions

4 interactions

InteractorPartnerSourcesPublicationsLink
ARSLCOQ6BioGRID, HPRD, IntAct16169070 details
ARSLTMEM259HPRD, IntAct16169070 details
ARSLNDNBioGRID, HPRD, IntAct16169070 details
ARSLTNK2HPRD, IntAct16169070 details