B3GALT6 Chromosome 1
Beta-1,3-galactosyltransferase 6
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What This Gene Does
The enzyme encoded by this intronless gene is a beta-1,3-galactosyltransferase found in the medial Golgi apparatus, where it catalyzes the transfer of galactose from UDP-galactose to substrates containing a terminal beta-linked galactose moiety. The encoded enzyme has a particular affinity for galactose-beta-1,4-xylose found in the linker region of glycosamines. This enzyme is required for glycosaminoglycan synthesis. [provided by RefSeq, Jun 2013]
Gene Info
Gene Group
Beta 3-glycosyltransferases
Locus Type
gene with protein product
Location
1p36.33
Ensembl
ENSG00000176022
Associated Conditions (11)
Ehlers-Danlos syndrome
spondylodysplastic type
2
Spondyloepimetaphyseal dysplasia with joint laxity
type 1
with or without fractures
Al-Gazali syndrome
Inborn genetic diseases
B3GALT6-related disorder
Spondyloepiphyseal dysplasia
with fractures
Key Variants
RS1057034356
Conflicting classifications of pathogenicity
Ehlers-Danlos syndrome, spondylodysplastic type, 2
Health Risk
RS1278117182
Conflicting classifications of pathogenicity
Ehlers-Danlos syndrome, spondylodysplastic type, 2
Health Risk
RS1314046622
Conflicting classifications of pathogenicity
Ehlers-Danlos syndrome, spondylodysplastic type, 2
Health Risk
RS1329926209
Conflicting classifications of pathogenicity
Ehlers-Danlos syndrome, spondylodysplastic type, 2
Health Risk
RS1638552845
Conflicting classifications of pathogenicity
Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures
Health Risk
RS200646244
Conflicting classifications of pathogenicity
Ehlers-Danlos syndrome, spondylodysplastic type, 2
Health Risk
RS201547600
Conflicting classifications of pathogenicity
Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures
Health Risk
RS2100993446
Conflicting classifications of pathogenicity
Ehlers-Danlos syndrome, spondylodysplastic type, 2
Health Risk
RS368078922
Conflicting classifications of pathogenicity
Spondyloepimetaphyseal dysplasia with joint laxity, Ehlers-Danlos syndrome, spondylodysplastic type
Health Risk
RS370328225
Conflicting classifications of pathogenicity
Spondyloepimetaphyseal dysplasia with joint laxity, Ehlers-Danlos syndrome, spondylodysplastic type
Health Risk
RS374677519
Conflicting classifications of pathogenicity
Ehlers-Danlos syndrome, spondylodysplastic type, 2
Health Risk
RS376811907
Conflicting classifications of pathogenicity
Ehlers-Danlos syndrome, spondylodysplastic type, 2
Health Risk
All Variants (46)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1057034356 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
| RS1278117182 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
| RS1314046622 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
| RS1329926209 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
| RS1638552845 | Health Risk | Conflicting classifications of pathogenicity | Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures |
| RS200646244 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
| RS201547600 | Health Risk | Conflicting classifications of pathogenicity | Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures |
| RS2100993446 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
| RS368078922 | Health Risk | Conflicting classifications of pathogenicity | Spondyloepimetaphyseal dysplasia with joint laxity, Ehlers-Danlos syndrome, spondylodysplastic type |
| RS370328225 | Health Risk | Conflicting classifications of pathogenicity | Spondyloepimetaphyseal dysplasia with joint laxity, Ehlers-Danlos syndrome, spondylodysplastic type |
| RS374677519 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
| RS376811907 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
| RS397514717 | Health Risk | Conflicting classifications of pathogenicity | Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures |
| RS533071750 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
| RS551984021 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
| RS562616873 | Health Risk | Conflicting classifications of pathogenicity | Spondyloepimetaphyseal dysplasia with joint laxity, Ehlers-Danlos syndrome, spondylodysplastic type |
| RS568623476 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
| RS750088530 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
| RS755700896 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
| RS760685441 | Health Risk | Conflicting classifications of pathogenicity | Spondyloepimetaphyseal dysplasia with joint laxity, Ehlers-Danlos syndrome, spondylodysplastic type |
| RS766274999 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
| RS867336520 | Health Risk | Conflicting classifications of pathogenicity | Spondyloepimetaphyseal dysplasia with joint laxity, Ehlers-Danlos syndrome, spondylodysplastic type |
| RS886138913 | Health Risk | Conflicting classifications of pathogenicity | Spondyloepimetaphyseal dysplasia with joint laxity, Ehlers-Danlos syndrome, spondylodysplastic type |
| RS892958562 | Health Risk | Conflicting classifications of pathogenicity | Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures |
| RS988906237 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
| RS1239366051 | Health Risk | Likely pathogenic | Spondyloepiphyseal dysplasia, Spondyloepiphyseal dysplasia |
| RS1375562480 | Health Risk | Likely pathogenic | — |
| RS1553151208 | Health Risk | Likely pathogenic | — |
| RS1360531002 | Health Risk | Pathogenic | Al-Gazali syndrome, Al-Gazali syndrome |
| RS1553151294 | Health Risk | Pathogenic | Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures |
| RS1638539773 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
| RS1638540007 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
| RS2521960362 | Health Risk | Pathogenic | Spondyloepimetaphyseal dysplasia with joint laxity, Ehlers-Danlos syndrome, spondylodysplastic type |
| RS397514718 | Health Risk | Pathogenic | Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures |
| RS397514719 | Health Risk | Pathogenic | Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures |
| RS397514720 | Health Risk | Pathogenic | Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures |
| RS397514723 | Health Risk | Pathogenic | Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with fractures |
| RS397514724 | Health Risk | Pathogenic | Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with fractures |
| RS763080896 | Health Risk | Pathogenic | Al-Gazali syndrome, Al-Gazali syndrome |
| RS786200938 | Health Risk | Pathogenic | Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures |
| RS786200939 | Health Risk | Pathogenic | Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures |
| RS786200943 | Health Risk | Pathogenic | Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with fractures |
| RS1638566519 | Health Risk | Pathogenic/Likely pathogenic | Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
| RS397514721 | Health Risk | Pathogenic/Likely pathogenic | Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
| RS778123798 | Health Risk | Pathogenic/Likely pathogenic | Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
| RS969701761 | Health Risk | Pathogenic/Likely pathogenic | Ehlers-Danlos syndrome, spondylodysplastic type, 2 |