The B3GALT6 gene homepage

Ehlers Danlos Syndrome Variant Database

General information
Gene symbol B3GALT6
Gene name beta-1,3-galactosyltransferase 6
Chromosome 1
Chromosomal band p36.33
Imprinted Unknown
Genomic reference NC_000001.10
Transcript reference NM_080605.3
Exon/intron information NM_080605.3 exon/intron table
Associated with diseases ALGAZ, EDSSPD2, SEMDJL-1
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (3) Cynthia Silveira, Raymond Dalgleish, and Wei Kheng Teh
Total number of public variants reported 90
Unique public DNA variants reported 56
Individuals with public variants 45
Hidden variants 3
Download all this gene's data Download all data
Notes Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland.
Date created May 03, 2013
Date last updated July 21, 2021
Version B3GALT6:210721

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_080605.3.
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
HGNC 17978
Entrez Gene 126792
PubMed articles B3GALT6
OMIM - Gene 615291
OMIM - Diseases ALGAZ (Al-Gazali syndrome (ALGAZ))
EDSSPD2 (syndrome, Ehlers-Danlos, spondylodysplastic, type 2 (EDSSPD2))
SEMDJL-1 (dysplasia, spondyloepimetaphyseal, with joint laxity (SEMDJL-1))
GeneCards B3GALT6
GeneTests B3GALT6
Orphanet B3GALT6

Active transcripts




NCBI ID     

NCBI Protein ID     

00003208 1 UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6 NM_080605.3 NP_542172.2 90

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