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_000153.3
Exon/intron information NM_000153.3 exon/intron table
Associated with diseases Galactosylceramide beta-galactosidase deficiency
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) LOVD-team, but with Curator vacancy
Total number of public variants reported 15
Unique public DNA variants reported 4
Individuals with public variants 15
Hidden variants 0
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 September 27, 2017
Version GALC:170927

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_000153.3.
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/GALC
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     
00025233 14 transcript variant 1 NM_000153.3 NP_000144.2 15


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