B3GALT6

  • 30
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
B3GALT6 (HGNC:17978) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
beta-1,3-galactosyltransferase 6
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
No previous names found
Alias symbols
beta3GalT6
%HI
73.2(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0.02(Read more about gnomAD pLI score)
LOEUF
1.43(Read more about gnomAD LOEUF score)
Cytoband
1p36.33
Genomic Coordinates
GRCh37/hg19: chr1:1167617-1170421 NCBI Ensembl UCSC
GRCh38/hg38: chr1:1232237-1235041 NCBI Ensembl UCSC
MANE Select Transcript
NM_080605.4 ENST00000379198.5 (Read more about MANE Select)
Function
Beta-1,3-galactosyltransferase that transfers galactose from UDP-galactose to substrates with a terminal beta-linked galactose residue. Has a preference for galactose-beta-1,4-xylose that is found in the linker region of glycosaminoglycans, such as heparan sulfate and chondroitin sulfate. Has no activity towards substrates with terminal glucosamine or galactosamine residues. {ECO:0000269|PubMed:11551958, ECO:0000269|PubMed:23664117, ECO:0000269|PubMed:29443383}. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-4534
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype (30)
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Last Evaluated:
08/22/2016

Haploinsufficiency (HI) Score Details

HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype (Disclaimer)
HI Disease:
  • spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures Monarch
HI Evidence Comments:
Biallelic variants have been reported in individuals with Al-Gazali syndrome, Ehlers-Danlos syndrome, spondylodysplastic type, 2, and spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures per OMIM.

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)

Genomic View

Select assembly: (NC_000001.10) (NC_000001.11)