ARSL (arylsulfatase L)

2019-08-01  

Identity

HGNC
ARSL
LOCATION
Xp22.33
LOCUSID
415
ALIAS
ARSE,ASE,CDPX,CDPX1,CDPXR

Other Information

Locus ID:

NCBI: 415
MIM: 300180
HGNC: 719
Ensembl: ENSG00000157399

Variants:

dbSNP: 415
ClinVar: 415
TCGA: ENSG00000157399
COSMIC: ARSL

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000157399ENST00000381134P51690
ENSG00000157399ENST00000438544C9J5G7
ENSG00000157399ENST00000540563F5H324
ENSG00000157399ENST00000545496F5GYY5

Pathways

PathwaySourceExternal ID
Metabolism of proteinsREACTOMER-HSA-392499
Post-translational protein modificationREACTOMER-HSA-597592
Gamma carboxylation, hypusine formation and arylsulfatase activationREACTOMER-HSA-163841
The activation of arylsulfatasesREACTOMER-HSA-1663150
MetabolismREACTOMER-HSA-1430728
Metabolism of lipids and lipoproteinsREACTOMER-HSA-556833
Sphingolipid metabolismREACTOMER-HSA-428157
Glycosphingolipid metabolismREACTOMER-HSA-1660662

References

Pubmed IDYearTitleCitations
360266112022Evidence for high breakpoint variability in 46, XX, SRY-positive testicular disorder and frequent ARSE deletion that may be associated with short stature.0
360266112022Evidence for high breakpoint variability in 46, XX, SRY-positive testicular disorder and frequent ARSE deletion that may be associated with short stature.0
253667982014Neonatal detection of Turner syndrome by real-time PCR gene quantification of the ARSE and MAGEH1 genes.2
253667982014Neonatal detection of Turner syndrome by real-time PCR gene quantification of the ARSE and MAGEH1 genes.2
234708392013A prospective study of brachytelephalangic chondrodysplasia punctata: identification of arylsulfatase E mutations, functional analysis of novel missense alleles, and determination of potential phenocopies.3
234708392013A prospective study of brachytelephalangic chondrodysplasia punctata: identification of arylsulfatase E mutations, functional analysis of novel missense alleles, and determination of potential phenocopies.3
183482682008Clinical and molecular analysis of arylsulfatase E in patients with brachytelephalangic chondrodysplasia punctata.6
183482682008Clinical and molecular analysis of arylsulfatase E in patients with brachytelephalangic chondrodysplasia punctata.6

Citation

Dessen P

ARSL (arylsulfatase L)

Atlas Genet Cytogenet Oncol Haematol. 2019-08-01

Online version: http://atlasgeneticsoncology.org/gene/58102/arsl-(arylsulfatase-l)