HomeAboutRankingsData Sources
© 2026 GeneE
🧬
GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
ⓘGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
B3GAT3
beta-1,3-glucuronyltransferase 3
Chromosome 11 · 11q12.3
NCBI Gene: 26229Ensembl: ENSG00000149541.10HGNC: HGNC:923UniProt: G3V150
51PubMed Papers
21Diseases
0Drugs
32Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
heparan sulfate proteoglycan biosynthetic processchondroitin sulfate proteoglycan biosynthetic processdermatan sulfate proteoglycan biosynthetic processprotein bindingLarsen-like syndrome, B3GAT3 typecongenital heart diseaseAutosomal dominant Larsen syndromeAbnormality of the skeletal system
✦AI Summary

B3GAT3 encodes beta-1,3-glucuronyltransferase 3, a critical enzyme in glycosaminoglycan (GAG) biosynthesis. It catalyzes the transfer of glucuronic acid from UDP-GlcUA to the trisaccharide linkage region (Gal-β1,3-Gal-β1,4-Xyl) on proteoglycans, forming the final tetrasaccharide linker that attaches GAG chains to core proteins 1. This enzyme exhibits strict substrate specificity and also stimulates phosphatase activity during linkage region completion 23. B3GAT3 functions in heparan sulfate, chondroitin sulfate, and dermatan sulfate proteoglycan biosynthesis, with roles in L2/HNK-1 carbohydrate epitope formation on glycoproteins 2. Biallelic B3GAT3 mutations cause linkeropathy, a rare autosomal recessive connective tissue disorder characterized by disproportionate short stature, skeletal dysplasia, facial dysmorphism, and spatulate distal phalanges 14. Variable clinical features include joint hypermobility, contractures, cardiac defects (including aortic root dilation), and bone fragility 15. Genotype-phenotype correlations suggest mutations in the substrate acceptor subdomain cause more severe phenotypes than those in the nucleotide-sugar donor binding domain 1. B3GAT3 is also implicated in hepatocellular carcinoma pathogenesis, with overexpression correlating to poor prognosis, making it a potential cancer therapeutic target 6. Additionally, sulfated GAGs produced via B3GAT3 represent epithelial targets for Candida albicans candidalysin toxin 7.

Sources cited
1
B3GAT3 involvement in glycosaminoglycan biosynthesis and L2/HNK-1 epitope formation
PMID: 25893793
2
B3GAT3 stimulates 2-phosphoxylose phosphatase activity during linkage region formation
PMID: 24425863
3
B3GAT3 mutations cause linkeropathy with skeletal dysplasia, facial dysmorphism, and variable cardiac defects; genotype-phenotype correlations in substrate binding domains
PMID: 31196143
4
B3GAT3-related disorders phenotypic spectrum and comparison with other linkeropathies
PMID: 31438591
5
B3GAT3 mutations associated with early-onset congenital heart defects and expanded clinical phenotype
PMID: 35151321
6
B3GAT3 overexpression in hepatocellular carcinoma and development of small molecule inhibitors
PMID: 38919032
7
Sulfated GAGs produced via B3GAT3 are epithelial targets of Candida albicans candidalysin
PMID: 39285260
8
B3GAT3 mutations associated with cardiac defects in inherited carbohydrate metabolism disorders
PMID: 37239976
9
B3GAT3-related linkeropathy characterized by multisystem phenotype including skeletal dysplasia and cardiac defects
PMID: 34537402
10
B3GAT3 mutations result in abolished GAG side chain biosynthesis on proteoglycans
PMID: 31988067
Disease Associationsⓘ21
Larsen-like syndrome, B3GAT3 typeOpen Targets
0.80Strong
congenital heart diseaseOpen Targets
0.37Weak
Autosomal dominant Larsen syndromeOpen Targets
0.37Weak
Abnormality of the skeletal systemOpen Targets
0.31Weak
genetic disorderOpen Targets
0.19Weak
irritable bowel syndromeOpen Targets
0.11Weak
Coxa VaraOpen Targets
0.08Suggestive
Blount diseaseOpen Targets
0.08Suggestive
Absent tibia - polydactylyOpen Targets
0.08Suggestive
tibia, hypoplasia or aplasia of, with polydactylyOpen Targets
0.08Suggestive
liver cancerOpen Targets
0.08Suggestive
tibial hemimeliaOpen Targets
0.07Suggestive
Hypoplastic tibiae - postaxial polydactylyOpen Targets
0.07Suggestive
metaphyseal anadysplasiaOpen Targets
0.07Suggestive
Gollop-Wolfgang complexOpen Targets
0.07Suggestive
Fibular aplasia - ectrodactylyOpen Targets
0.07Suggestive
fibular aplasia-ectrodactyly syndromeOpen Targets
0.07Suggestive
AcheiropodiaOpen Targets
0.07Suggestive
Acromesomelic dysplasia, Grebe typeOpen Targets
0.06Suggestive
Brachydactyly - preaxial hallux varusOpen Targets
0.06Suggestive
Multiple joint dislocations, short stature, and craniofacial dysmorphism with or without congenital heart defectsUniProt
Pathogenic Variants32
NM_012200.4(B3GAT3):c.516_517insT (p.Gly173fs)Pathogenic
Larsen-like syndrome, B3GAT3 type|not provided
★★☆☆2026→ Residue 173
NM_012200.4(B3GAT3):c.1A>T (p.Met1Leu)Pathogenic
not provided|Larsen-like syndrome, B3GAT3 type
★★☆☆2025→ Residue 1
NM_012200.4(B3GAT3):c.505C>T (p.Arg169Trp)Pathogenic
MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITHOUT CONGENITAL HEART DEFECTS|Larsen-like syndrome, B3GAT3 type
★★☆☆2025→ Residue 169
NM_012200.4(B3GAT3):c.175C>T (p.Arg59Ter)Pathogenic
Larsen-like syndrome, B3GAT3 type|not provided
★★☆☆2025→ Residue 59
NM_012200.4(B3GAT3):c.673C>T (p.Arg225Ter)Pathogenic
not provided|MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITHOUT CONGENITAL HEART DEFECTS|Larsen-like syndrome, B3GAT3 type
★★☆☆2025→ Residue 225
NM_012200.4(B3GAT3):c.85C>T (p.Gln29Ter)Pathogenic
not provided|Larsen-like syndrome, B3GAT3 type
★★☆☆2024→ Residue 29
NM_012200.4(B3GAT3):c.830G>A (p.Arg277Gln)Pathogenic
Larsen-like syndrome, B3GAT3 type|MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH CONGENITAL HEART DEFECTS|not provided
★★☆☆2024→ Residue 277
NM_012200.4(B3GAT3):c.334G>T (p.Glu112Ter)Pathogenic
Larsen-like syndrome, B3GAT3 type
★★☆☆2024→ Residue 112
NM_012200.4(B3GAT3):c.283C>T (p.Arg95Ter)Pathogenic
Larsen-like syndrome, B3GAT3 type|not provided
★★☆☆2024→ Residue 95
NM_012200.4(B3GAT3):c.277C>G (p.Leu93Val)Pathogenic
Larsen-like syndrome, B3GAT3 type
★☆☆☆2026→ Residue 93
NM_012200.4(B3GAT3):c.671T>A (p.Leu224Gln)Pathogenic
not provided
★☆☆☆2025→ Residue 224
NM_012200.4(B3GAT3):c.667G>A (p.Gly223Ser)Pathogenic
MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH CONGENITAL HEART DEFECTS|Larsen-like syndrome, B3GAT3 type
★☆☆☆2025→ Residue 223
NM_012200.4(B3GAT3):c.631del (p.Arg211fs)Pathogenic
Larsen-like syndrome, B3GAT3 type
★☆☆☆2025→ Residue 211
NM_012200.4(B3GAT3):c.257+1G>ALikely pathogenic
Larsen-like syndrome, B3GAT3 type
★☆☆☆2025
NM_012200.4(B3GAT3):c.1A>G (p.Met1Val)Likely pathogenic
Larsen-like syndrome, B3GAT3 type
★☆☆☆2025→ Residue 1
NM_012200.4(B3GAT3):c.604G>T (p.Glu202Ter)Pathogenic
Larsen-like syndrome, B3GAT3 type
★☆☆☆2025→ Residue 202
NM_012200.4(B3GAT3):c.2T>G (p.Met1Arg)Likely pathogenic
Larsen-like syndrome, B3GAT3 type
★☆☆☆2024→ Residue 1
NM_012200.4(B3GAT3):c.231_234del (p.Ile77fs)Pathogenic
Larsen-like syndrome, B3GAT3 type
★☆☆☆2024→ Residue 77
NM_012200.4(B3GAT3):c.298_301del (p.Leu100fs)Pathogenic
Larsen-like syndrome, B3GAT3 type
★☆☆☆2024→ Residue 100
NM_012200.4(B3GAT3):c.246del (p.Thr83fs)Pathogenic
Larsen-like syndrome, B3GAT3 type
★☆☆☆2024→ Residue 83
View on ClinVar ↗
Related Genes
CSGALNACT2Protein interaction97%EXTL3Protein interaction77%B4GALT7Protein interaction77%SLC35B2Protein interaction75%CSGALNACT1Protein interaction73%XYLT1Protein interaction71%
Tissue Expression6 tissues
Liver
100%
Bone Marrow
79%
Ovary
77%
Lung
67%
Brain
50%
Heart
33%
Gene Interaction Network
Click a node to explore
B3GAT3CSGALNACT2EXTL3B4GALT7SLC35B2CSGALNACT1XYLT1
PROTEIN STRUCTURE
Preparing viewer…
PDB3CU0 · 1.90 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.82LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.56 [0.39–0.82]
RankingsWhere B3GAT3 stands among ~20K protein-coding genes
  • #8,648of 20,598
    Most Researched51
  • #1,761of 5,498
    Most Pathogenic Variants32
  • #7,012of 17,882
    Most Constrained (LOEUF)0.82
Genes detectedB3GAT3
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Metabolic Cardiomyopathies and Cardiac Defects in Inherited Disorders of Carbohydrate Metabolism: A Systematic Review.
PMID: 37239976
Int J Mol Sci · 2023
1.00
2
The clinical and mutational spectrum of B3GAT3 linkeropathy: two case reports and literature review.
PMID: 31196143
Orphanet J Rare Dis · 2019
0.90
3
Sulfated glycosaminoglycans are host epithelial cell targets of the Candida albicans toxin candidalysin.
PMID: 39285260
Nat Microbiol · 2024
0.80
4
Severe phenotypes of B3GAT3-related disorder caused by two heterozygous variants: a case report and literature review.
PMID: 35151321
BMC Med Genomics · 2022
0.70
5
Further Defining the Phenotypic Spectrum of B3GAT3 Mutations and Literature Review on Linkeropathy Syndromes.
PMID: 31438591
Genes (Basel) · 2019
0.60