View GALC gene homepage

General information
Gene symbol GALC
Gene name galactosylceramidase
Chromosome 14
Chromosomal band q31
Imprinted Unknown
Genomic reference NG_011853.2
Transcript reference NM_000153.2
Associated with diseases Galactosylceramide beta-galactosidase deficiency
Citation reference(s) -
Curators (1) LOVD-team, but with Curator vacancy
Total number of public variants reported 14
Unique public DNA variants reported 3
Individuals with public variants 14
Hidden variants 0
Notes The establishment of this gene variant database (LSDB) was supported by the European Community's Seventh Framework Programme (FP7/2007-2013) under grant agreement nÂș 200754 - the GEN2PHEN project.
Date created April 05, 2011
Date last updated October 16, 2016
Version GALC:161016

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
External URL Orphanet
HGNC 4115
Entrez Gene 2581
PubMed articles GALC
OMIM - Gene 606890
OMIM - Diseases Galactosylceramide beta-galactosidase deficiency
HGMD GALC
GeneCards GALC
GeneTests GALC


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00000069 14 galactosylceramidase, transcript variant 1 (expired, new version available) NM_000153.2 NP_000144.2 14


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