The 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
Exon/intron information NM_000404.2 exon/intron table
Associated with diseases GM1G, GM1G1, GM1G2, GM1G3, MPS4B
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 238
Unique public DNA variants reported 110
Individuals with public variants 158
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 February 26, 2024
Version GLB1:240226

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_000404.2.
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 https://www.LOVD.nl/GLB1
HGNC 4298
Entrez Gene 2720
PubMed articles GLB1
OMIM - Gene 611458
OMIM - Diseases GM1G1 (gangliosidosis, GM1, type I)
GM1G2 (gangliosidosis, GM1, type II)
GM1G3 (gangliosidosis, GM1 type III)
MPS4B (mucopolysaccharidosis, type IVB (MPS4B))
HGMD GLB1
GeneCards GLB1
GeneTests GLB1
Orphanet GLB1


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00000171 3 galactosidase, beta 1, transcript variant 1 NM_000404.2 NP_000395.2 238


Copyright & disclaimer
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