B3GAT3 Chromosome 11
Beta-1,3-glucuronyltransferase 3
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What This Gene Does
The protein encoded by this gene is a member of the glucuronyltransferase gene family, enzymes that exhibit strict acceptor specificity, recognizing nonreducing terminal sugars and their anomeric linkages. This gene product catalyzes the formation of the glycosaminoglycan-protein linkage by way of a glucuronyl transfer reaction in the final step of the biosynthesis of the linkage region of proteoglycans. A pseudogene of this gene has been identified on chromosome 3. [provided by RefSeq, Dec 2013]
Gene Info
Gene Group
Beta-1,3-glucuronyltransferases
Locus Type
gene with protein product
Location
11q12.3
Ensembl
ENSG00000149541
Associated Conditions (13)
Larsen-like syndrome
B3GAT3 type
Inborn genetic diseases
Clear cell carcinoma of kidney
Thyroid cancer
nonmedullary
1
Melanoma
B3GAT3-related disorder
MULTIPLE JOINT DISLOCATIONS
SHORT STATURE
AND CRANIOFACIAL DYSMORPHISM WITH CONGENITAL HEART DEFECTS
AND CRANIOFACIAL DYSMORPHISM WITHOUT CONGENITAL HEART DEFECTS
Key Variants
RS140378202
Conflicting classifications of pathogenicity
Larsen-like syndrome, B3GAT3 type, Inborn genetic diseases
Health Risk
RS1454428915
Conflicting classifications of pathogenicity
Larsen-like syndrome, B3GAT3 type, Larsen-like syndrome
Health Risk
RS150651989
Conflicting classifications of pathogenicity
Larsen-like syndrome, B3GAT3 type, Larsen-like syndrome
Health Risk
RS200511074
Conflicting classifications of pathogenicity
Larsen-like syndrome, B3GAT3 type, Inborn genetic diseases
Health Risk
RS201387537
Conflicting classifications of pathogenicity
Larsen-like syndrome, B3GAT3 type, Larsen-like syndrome
Health Risk
RS201779956
Conflicting classifications of pathogenicity
Larsen-like syndrome, B3GAT3 type, Larsen-like syndrome
Health Risk
RS765246909
Conflicting classifications of pathogenicity
Larsen-like syndrome, B3GAT3 type, Larsen-like syndrome
Health Risk
RS772496010
Conflicting classifications of pathogenicity
Larsen-like syndrome, B3GAT3 type, B3GAT3-related disorder
Health Risk
RS1046674759
Likely pathogenic
Larsen-like syndrome, B3GAT3 type, Larsen-like syndrome
Health Risk
RS1085307917
Likely pathogenic
Health Risk
RS139759238
Likely pathogenic
Larsen-like syndrome, B3GAT3 type, Larsen-like syndrome
Health Risk
RS2134426262
Likely pathogenic
Larsen-like syndrome, B3GAT3 type, Larsen-like syndrome
Health Risk
All Variants (32)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS140378202 | Health Risk | Conflicting classifications of pathogenicity | Larsen-like syndrome, B3GAT3 type, Inborn genetic diseases |
| RS1454428915 | Health Risk | Conflicting classifications of pathogenicity | Larsen-like syndrome, B3GAT3 type, Larsen-like syndrome |
| RS150651989 | Health Risk | Conflicting classifications of pathogenicity | Larsen-like syndrome, B3GAT3 type, Larsen-like syndrome |
| RS200511074 | Health Risk | Conflicting classifications of pathogenicity | Larsen-like syndrome, B3GAT3 type, Inborn genetic diseases |
| RS201387537 | Health Risk | Conflicting classifications of pathogenicity | Larsen-like syndrome, B3GAT3 type, Larsen-like syndrome |
| RS201779956 | Health Risk | Conflicting classifications of pathogenicity | Larsen-like syndrome, B3GAT3 type, Larsen-like syndrome |
| RS765246909 | Health Risk | Conflicting classifications of pathogenicity | Larsen-like syndrome, B3GAT3 type, Larsen-like syndrome |
| RS772496010 | Health Risk | Conflicting classifications of pathogenicity | Larsen-like syndrome, B3GAT3 type, B3GAT3-related disorder |
| RS1046674759 | Health Risk | Likely pathogenic | Larsen-like syndrome, B3GAT3 type, Larsen-like syndrome |
| RS1085307917 | Health Risk | Likely pathogenic | — |
| RS139759238 | Health Risk | Likely pathogenic | Larsen-like syndrome, B3GAT3 type, Larsen-like syndrome |
| RS2134426262 | Health Risk | Likely pathogenic | Larsen-like syndrome, B3GAT3 type, Larsen-like syndrome |
| RS895774521 | Health Risk | Likely pathogenic | Larsen-like syndrome, B3GAT3 type, Larsen-like syndrome |
| RS1419830872 | Health Risk | Pathogenic | — |
| RS1447702013 | Health Risk | Pathogenic | Larsen-like syndrome, B3GAT3 type, Larsen-like syndrome |
| RS1943043756 | Health Risk | Pathogenic | Larsen-like syndrome, B3GAT3 type, Larsen-like syndrome |
| RS1943126956 | Health Risk | Pathogenic | Larsen-like syndrome, B3GAT3 type, Larsen-like syndrome |
| RS2496251511 | Health Risk | Pathogenic | Larsen-like syndrome, B3GAT3 type, Larsen-like syndrome |
| RS2496251561 | Health Risk | Pathogenic | Larsen-like syndrome, B3GAT3 type, Larsen-like syndrome |
| RS2496258057 | Health Risk | Pathogenic | Larsen-like syndrome, B3GAT3 type, Larsen-like syndrome |
| RS372487178 | Health Risk | Pathogenic | MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH CONGENITAL HEART DEFECTS |
| RS755601885 | Health Risk | Pathogenic | Larsen-like syndrome, B3GAT3 type, Larsen-like syndrome |
| RS759636773 | Health Risk | Pathogenic | Larsen-like syndrome, B3GAT3 type, Larsen-like syndrome |
| RS879255269 | Health Risk | Pathogenic | MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITHOUT CONGENITAL HEART DEFECTS |
| RS1554968726 | Health Risk | Pathogenic/Likely pathogenic | Larsen-like syndrome, B3GAT3 type, Larsen-like syndrome |
| RS1943052192 | Health Risk | Pathogenic/Likely pathogenic | Larsen-like syndrome, B3GAT3 type, Larsen-like syndrome |
| RS377340567 | Health Risk | Pathogenic/Likely pathogenic | MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITHOUT CONGENITAL HEART DEFECTS |
| RS387906937 | Health Risk | Pathogenic/Likely pathogenic | Larsen-like syndrome, B3GAT3 type, MULTIPLE JOINT DISLOCATIONS |
| RS535206047 | Health Risk | Pathogenic/Likely pathogenic | Larsen-like syndrome, B3GAT3 type, Larsen-like syndrome |
| RS750685646 | Health Risk | Pathogenic/Likely pathogenic | Larsen-like syndrome, B3GAT3 type, Larsen-like syndrome |
| RS754512227 | Health Risk | Pathogenic/Likely pathogenic | Larsen-like syndrome, B3GAT3 type, Larsen-like syndrome |
| RS766019547 | Health Risk | Pathogenic/Likely pathogenic | MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITHOUT CONGENITAL HEART DEFECTS |