The ASAH1 gene homepage

This database is one of the gene variant databases from the "Leiden Muscular Dystrophy pages" (LMDp)
General information
Gene symbol ASAH1
Gene name N-acylsphingosine amidohydrolase (acid ceramidase) 1
Chromosome 8
Chromosomal band p22
Imprinted Unknown
Genomic reference NG_008985.2
Transcript reference NM_004315.4
Exon/intron information NM_004315.4 exon/intron table
Associated with diseases FRBRL, SMAPME
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 113
Unique public DNA variants reported 66
Individuals with public variants 318
Hidden variants 3
Download all this gene's data Download all data
Notes This database is one of the gene variant databases from the:
Date created April 29, 2012
Date last updated September 15, 2020
Version ASAH1:200915

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_004315.4.
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
HGNC 735
Entrez Gene 427
PubMed articles ASAH1
OMIM - Gene 613468
OMIM - Diseases FRBRL (Farber lipogranulomatosis (FRBRL))
SMAPME (atrophy, muscular, spinal, with progressive myoclonic epilepsy (SMAPME))
GeneCards ASAH1
GeneTests ASAH1

Active transcripts




NCBI ID     

NCBI Protein ID     

00002936 8 transcript variant 2 NM_004315.4 NP_004306.3 113

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 © 2012-2020. 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.