GLB1 gene homepage

General information
Gene symbol GLB1
Gene name galactosidase, beta 1
Chromosome 3
Chromosomal band p22.3
Imprinted Unknown
Genomic reference NG_009005.1
Transcript reference NM_000404.2
Associated with diseases gangliosidosis, gangliosidosis-I, gangliosidosis-II, gangliosidosis-III, MPS4B
Citation reference(s) -
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 221
Unique public DNA variants reported 101
Individuals with public variants 154
Hidden variants 4
Download all this gene's data Download all data
Notes Establishment of the database was supported by the European Community's Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project.
Date created April 05, 2011
Date last updated August 30, 2020
Version GLB1:200830

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
External URL Orphanet
HGNC 4298
Entrez Gene 2720
PubMed articles GLB1
OMIM - Gene 611458
OMIM - Diseases gangliosidosis-I (gangliosidosis, GM1, type I)
gangliosidosis-II (gangliosidosis, GM1, type II)
gangliosidosis-III (gangliosidosis, GM1 type III)
MPS4B (mucopolysaccharidosis, type IVB (MPS4B))
GeneCards GLB1
GeneTests GLB1

Active transcripts




NCBI ID     

NCBI Protein ID     

00000171 3 galactosidase, beta 1, transcript variant 1 NM_000404.2 NP_000395.2 221

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 © 2011-2020. 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.