The PMP22 gene homepage

This database is one of the gene variant databases from the Leiden Muscular Dystrophy pages
General information
Gene symbol PMP22
Gene name peripheral myelin protein 22
Chromosome 17
Chromosomal band p12
Imprinted Unknown
Genomic reference NG_007949.1
Transcript reference NM_000304.3
Exon/intron information NM_000304.3 exon/intron table
Associated with diseases CMT-1E, CMT1A, Dejerine-Sottas, HNPP, Roussy-Levy, Guillain-Barre syndrome, familial
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (2) Global Variome, with Curator vacancy and Johan den Dunnen
Total number of public variants reported 205
Unique public DNA variants reported 114
Individuals with public variants 378
Hidden variants 1
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
Date created April 29, 2010
Date last updated February 08, 2021
Version PMP22:210208

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_000304.3.
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 IPNMDB - Inherited Peripheral Neuropathies Mutation DataBase
HGNC 9118
Entrez Gene 5376
PubMed articles PMP22
OMIM - Gene 601097
OMIM - Diseases CMT-1E (Charcot-Marie-Tooth disease, type IE (CMT-1E))
CMT1A (Charcot-Marie-Tooth disease, type IA (CMT1A))
Dejerine-Sottas (neuropathy, hypertrophic, Dejerine-Sottas (Dejerine-Sottas))
HNPP (neuropathy, hereditary, with liability pressure palsies (HNPP))
Roussy-Levy (syndrome, Roussy-Levy)
Guillain-Barre syndrome, familial
GeneCards PMP22
GeneTests PMP22
Orphanet PMP22

Active transcripts




NCBI ID     

NCBI Protein ID     

00025424 17 transcript variant 1 NM_000304.3 NP_000295.1 205

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 © 2010-2021. 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.