ARSL (arylsulfatase L)

2019-08-01 Affiliation

HGNC

ARSL

LOCATION

Xp22.33

LOCUSID

415

ALIAS

ARSE,ASE,CDPX,CDPX1,CDPXR

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

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

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

Pathway	Source	External ID
Metabolism of proteins	REACTOME	R-HSA-392499
Post-translational protein modification	REACTOME	R-HSA-597592
Gamma carboxylation, hypusine formation and arylsulfatase activation	REACTOME	R-HSA-163841
The activation of arylsulfatases	REACTOME	R-HSA-1663150
Metabolism	REACTOME	R-HSA-1430728
Metabolism of lipids and lipoproteins	REACTOME	R-HSA-556833
Sphingolipid metabolism	REACTOME	R-HSA-428157
Glycosphingolipid metabolism	REACTOME	R-HSA-1660662

Pubmed ID	Year	Title	Citations
18348268	2008	Clinical and molecular analysis of arylsulfatase E in patients with brachytelephalangic chondrodysplasia punctata.	4
25366798	2014	Neonatal detection of Turner syndrome by real-time PCR gene quantification of the ARSE and MAGEH1 genes.	2
23470839	2013	A prospective study of brachytelephalangic chondrodysplasia punctata: identification of arylsulfatase E mutations, functional analysis of novel missense alleles, and determination of potential phenocopies.	1

Dessen P

ARSL (arylsulfatase L)

Atlas Genet Cytogenet Oncol Haematol. 2019-08-01