GMPPB gene homepage

This database is one of the gene variant databases from the "Leiden Muscular Dystrophy pages" (LMDp)
General information
Gene symbol GMPPB
Gene name GDP-mannose pyrophosphorylase B
Chromosome 3
Chromosomal band p21.31
Imprinted Unknown
Genomic reference NG_033731.1
Transcript reference NM_013334.3
Associated with diseases ID, LGMD-2T, MDDGA-14, MDDGB-14
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Johan den Dunnen
Total number of public variants reported 101
Unique public DNA variants reported 63
Individuals with public variants 39
Hidden variants 0
Download all this gene's data Download all data
Notes This database is one of the gene variant databases from the:
Date created July 01, 2013
Date last updated October 11, 2019
Version GMPPB:191011

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
HGNC 22932
Entrez Gene 29925
PubMed articles GMPPB
OMIM - Gene 615320
OMIM - Diseases LGMD-2T (MDDGC-14)
MDDGA-14 (dystrophy, muscular, dystroglycanopathy (congenital with brain and eye anomalies), type A14 (MDDGA-14))
MDDGB-14 (dystrophy, muscular, dystroglycanopathy (congenital with mental retardation), type B14 (MDDGB-14))
GeneCards GMPPB
GeneTests GMPPB

Active transcripts




NCBI ID     

NCBI Protein ID     

00024073 3 transcript variant 1 NM_013334.3 NP_037466.2 101

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 © 2013-2019. 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.