PRX gene homepage

This database is one of the gene variant databases from the Leiden Muscular Dystrophy pages
General information
Gene symbol PRX
Gene name periaxin
Chromosome 19
Chromosomal band q13.2
Imprinted Unknown
Genomic reference NG_007979.1
Transcript reference NM_020956.2, NM_181882.2
Exon/intron information NM_020956.2 exon/intron table, NM_181882.2 exon/intron table
Associated with diseases CMT-4F, Dejerine-Sottas
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) LOVD-team, but with Curator vacancy
Total number of public variants reported 129
Unique public DNA variants reported 105
Individuals with public variants 71
Hidden variants 14
Download all this gene's data Download all data
Notes This database is one of the gene variant databases from the:.
Variants involved in Inherited Peripheral Neuropathies are also collected by the IPNMDB. All variants submitted here will be shared with the IPNMDB.
Date created May 23, 2012
Date last updated March 23, 2020
Version PRX:200323

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_020956.2, NM_181882.2.
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/PRX
HGNC 13797
Entrez Gene 57716
PubMed articles PRX
OMIM - Gene 605725
OMIM - Diseases CMT-4F (Charcot-Marie-Tooth disease, type 4F (CMT-4F))
Dejerine-Sottas (neuropathy, hypertrophic, Dejerine-Sottas (Dejerine-Sottas))
HGMD PRX
GeneCards PRX
GeneTests PRX


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00023867 19 transcript variant 2 NM_181882.2 NP_870998.2 129
00016986 19 transcript variant 1 NM_020956.2 NP_066007.1 97


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.