CTSD gene homepage

An NCL gene variant database
General information
Gene symbol CTSD
Gene name cathepsin D
Chromosome 11
Chromosomal band p15.5
Imprinted Unknown
Genomic reference NG_008655.1
Transcript reference NM_001909.4
Exon/intron information NM_001909.4 exon/intron table
Associated with diseases CLN-10
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (2) Sara Mole and LOVD-team, but with Curator vacancy
Total number of public variants reported 49
Unique public DNA variants reported 35
Individuals with public variants 1
Hidden variants 2
Download all this gene's data Download all data
Notes Alias CLN10.
An NCL gene variant database.
Establishment of this database was supported by the European Community's Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project.
Date created April 29, 2010
Date last updated January 07, 2018
Version CTSD:180107

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_001909.4.
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 https://www.LOVD.nl/CTSD
External URL Orphanet
HGNC 2529
Entrez Gene 1509
PubMed articles CTSD
OMIM - Gene 116840
OMIM - Diseases CLN-10 (lipofuscinosis, ceroid, neuronal, type 10 (CLN-10))
HGMD CTSD
GeneCards CTSD
GeneTests CTSD


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00005867 11 cathepsin D NM_001909.4 NP_001900.1 49


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.