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Gene: ARSL (arylsulfatase L) Homo sapiens
Symbol: ARSL
Name: 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]
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: ARSE; arylsulfatase E; arylsulfatase E (chondrodysplasia punctata 1); ASE; CDPX; CDPX1; CDPXR; chondrodysplasia punctata 1; MGC163310
Rattus norvegicus (Norway rat) : Arse (arylsulfatase E)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Arsl (arylsulfatase L)
Pan paniscus (bonobo/pygmy chimpanzee) : ARSL (arylsulfatase L)
Canis lupus familiaris (dog) : ARSE (arylsulfatase E)
Sus scrofa (pig) : ARSE (arylsulfatase E (chondrodysplasia punctata 1))
more info ...
Related Pseudogenes: ARSLP1  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Human AssemblyChrPosition (strand)SourceGenome Browsers
GRCh38X2,934,521 - 2,968,312 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X2,852,673 - 2,886,345 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X2,862,673 - 2,892,494 (-)NCBINCBI36hg18NCBI36
Build 34X2,846,212 - 2,875,672NCBI
CeleraX7,132,912 - 7,162,720 (-)NCBI
Cytogenetic MapXp22.33NCBI
HuRefX795,878 - 825,985 (-)NCBIHuRef
CHM1_1X2,883,876 - 2,917,560 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)

Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
Phenotype Annotations
References - curated
References - uncurated


Comparative Map Data
Position Markers
miRNA Target Status


Nucleotide Sequences
Protein Sequences
Clinical Variants

Additional Information

External Database Links
Nomenclature History
More on ARSL
Alliance Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

CRRD Object Information
CRRD ID: 1312633
Created: 2005-01-12
Species: Homo sapiens
Last Modified: 2019-10-08
Status: ACTIVE


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.