The MPZ gene homepage

This database is one of the gene variant databases from the "Leiden Muscular Dystrophy pages" (LMDp)
General information
Gene symbol MPZ
Gene name myelin protein zero
Chromosome 1
Chromosomal band q22
Imprinted Unknown
Genomic reference LRG_256
Transcript reference NM_000530.6
Exon/intron information NM_000530.6 exon/intron table
Associated with diseases CHN1, CHN2, CMT1B, CMT2I, CMT2J, CMTDID, DejerineSottas, RoussyLevy
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 365
Unique public DNA variants reported 237
Individuals with public variants 235
Hidden variants 5
Notes This database is one of the gene variant databases from the:
Variants involved in Inherited Peripheral Neuropathies are also collected by the IPNMDB. Variants submitted here will be shared with the IPNMDB.
Date created April 29, 2010
Date last updated July 07, 2023
Version MPZ:230707

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_000530.6.
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 7225
Entrez Gene 4359
PubMed articles MPZ
OMIM - Gene 159440
OMIM - Diseases CHN1 (neuropathy, hypomyelinating, congenital, type 1)
CHN2 (Hypomyelinating neuropathy, congenital, 2)
CMT1B (Charcot-Marie-Tooth disease, type IB (CMT-1B))
CMT2I (Charcot-Marie-Tooth disease, type 2I (CMT-2I))
CMT2J (Charcot-Marie-Tooth disease, type 2J (CMT-2J))
CMTDID (Charcot-Marie-Tooth disease, dominant intermediate, type D (CMTDID))
DejerineSottas (Dejerine-Sottas disease (hypertrophic neuropathy))
RoussyLevy (Roussy-Levy syndrome)
GeneCards MPZ
GeneTests MPZ
Orphanet MPZ

Active transcripts




NCBI ID     

NCBI Protein ID     

00013815 1 myelin protein zero NM_000530.6 NP_000521.2 365

Copyright & disclaimer
The contents of this LOVD database are the intellectual property of the respective submitter(s) and curator(s) of the individual records. Individual data entries may indicate which data license applies to that specific record. When no license is listed, no permissions are granted. Any unauthorized 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 © 2010-2023. 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 from any inaccuracies or omissions. Individuals, organizations, and companies that use this database do so on the understanding that no liability whatsoever, either direct or indirect, shall rest upon the data submitter(s), 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.