ZMPSTE24 gene homepage

This database is one of the gene variant databases from the Leiden Muscular Dystrophy pages
General information
Gene symbol ZMPSTE24
Gene name zinc metallopeptidase STE24
Chromosome 1
Chromosomal band p34
Imprinted Unknown
Genomic reference LRG_212
Transcript reference NM_005857.4
Associated with diseases MAD, MADB, RD, dermopathy, restrictive, lethal
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) LOVD-team, but with Curator vacancy
Total number of public variants reported 173
Unique public DNA variants reported 54
Individuals with public variants 283
Hidden variants 0
Notes This database is one of the gene variant databases from the:
Date created July 08, 2006
Date last updated December 29, 2017
Version ZMPSTE24:171229

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
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/ZMPSTE24
HGNC 12877
Entrez Gene 10269
PubMed articles ZMPSTE24
OMIM - Gene 606480
OMIM - Diseases MADB (dysplasia, mandibuloacral, with type B lipodystrophy (MADB))
dermopathy, restrictive, lethal
HGMD ZMPSTE24
GeneCards ZMPSTE24
GeneTests ZMPSTE24


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00023203 1 zinc metallopeptidase STE24 homolog (S. cerevisiae) NM_005857.4 NP_005848.2 173


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 © 2006-2019. 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.