LOVD MPZ homepage

General information
Gene name Myelin protein zero
Gene symbol MPZ
Chromosome Location 1q22
Database location the Leiden Muscular Dystrophy pages
Curator Johan den Dunnen
PubMed references View all (unique) PubMed references in the MPZ database
Date of creation April 29, 2010
Last update March 29, 2013
Version MPZ130329
Add sequence variant Submit a sequence variant
First time submitters Register here
Reference sequence file coding DNA reference sequence for describing sequence variants
Genomic refseq ID NG_008055.1
Transcript refseq ID NM_000530.6
Exon/intron information Exon/intron information table
Total number of unique DNA variants reported 1
Total number of individuals with variant(s) 2
Total number of variants reported 2
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NOTE Variants involved in Inherited Peripheral Neuropathies are also collected by the IPNMDB.
All variants submitted here will be shared with the IPNMDB.

Graphical displays and utilities
Summary tables Summary of all sequence variants in the MPZ database, sorted by type of variant (with graphical displays and statistics)
Reading-frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes
UCSC Genome Browser Show variants in the UCSC Genome Browser (compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Sequence variant tables
Unique sequence variants Listing of all unique sequence variants in the MPZ database, without patient data
Complete sequence variant listing Listing of all sequence variants in the MPZ database
Variants with no known pathogenicity Listing of all MPZ variants reported to have no noticeable phenotypic effect (note: excluding variants of unknown effect)

Search the database
By type of variant View all sequence variants of a certain type
Simple search Query the database by selecting the most important variables (exon number, type of variant, disease phenotype)
Advanced search Query the database by selecting a combination of variables
Based on patient origin View all variants based on your patient origin search terms
Search through hidden entries Find the number of variant entries in the database (including hidden entries) matching your search terms.

Links to other resources
Homepage http://www.LOVD.nl/MPZ
HGNC 7225
Entrez Gene 4359
OMIM - Gene 159440
OMIM - Disease #1 ROUSSY-LEVY HEREDITARY AREFLEXIC DYSTASIA
OMIM - Disease #2 HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS
OMIM - Disease #3 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2I
OMIM - Disease #4 CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1B
OMIM - Disease #5 ADIE PUPIL
OMIM - Disease #6 CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE D
OMIM - Disease #7 NEUROPATHY, CONGENITAL HYPOMYELINATING
OMIM - Disease #8 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2J
UniProtKB (SwissProt/TrEMBL) P25189
HGMD MPZ
GeneCards MPZ
GeneTests MPZ
External link IPNMDB - Inherited Peripheral Neuropathies Mutation DataBase

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 © 2014. 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.