ARSA gene homepage

General information
Gene symbol ARSA
Gene name arylsulfatase A
Chromosome 22
Chromosomal band q13.31-qter
Imprinted Unknown
Genomic reference NG_009260.2
Transcript reference NM_000487.5
Exon/intron information NM_000487.5 exon/intron table
Associated with diseases MLD
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Alessandra Biffi
Total number of public variants reported 896
Unique public DNA variants reported 258
Individuals with public variants 470
Hidden variants 4
Notes Establishment of this gene variant database (LSDB) was supported by the European Community's Seventh Framework Programme (FP7/2007-2013) under grant agreement nÂș 200754 - the GEN2PHEN project.
Date created April 29, 2010
Date last updated July 27, 2019
Version ARSA:190727

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_000487.5.
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage URL
External URL Orphanet
Ospedale San Rafaele
HGNC 713
Entrez Gene 410
PubMed articles ARSA
OMIM - Gene 607574
OMIM - Diseases MLD (leukodystrophy, metachromatic (MLD, arylsulfatase A deficiency))
GeneCards ARSA
GeneTests ARSA

Active transcripts




NCBI ID     

NCBI Protein ID     

00002917 22 transcript variant 1 NM_000487.5 NP_000478.3 896

Copyright & disclaimer
The contents of this LOVD database are the intellectual property of the respective curator(s). Any unauthorised use, copying, storage or distribution of this material without written permission from the curator(s) will lead to copyright infringement with possible ensuing litigation. Copyright © 2010-2019. All Rights Reserved. For further details, refer to Directive 96/9/EC of the European Parliament and the Council of March 11 (1996) on the legal protection of databases.

We have used all reasonable efforts to ensure that the information displayed on these pages and contained in the databases is of high quality. We make no warranty, express or implied, as to its accuracy or that the information is fit for a particular purpose, and will not be held responsible for any consequences arising out of any inaccuracies or omissions. Individuals, organisations and companies which use this database do so on the understanding that no liability whatsoever either direct or indirect shall rest upon the curator(s) or any of their employees or agents for the effects of any product, process or method that may be produced or adopted by any part, notwithstanding that the formulation of such product, process or method may be based upon information here provided.