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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
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B4GALT7
beta-1,4-galactosyltransferase 7
Chromosome 5 Β· 5q35.3
NCBI Gene: 11285Ensembl: ENSG00000027847.15HGNC: HGNC:930UniProt: B3KMT1
46PubMed Papers
21Diseases
0Drugs
24Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
negative regulation of fibroblast proliferationprotein bindinggalactosyltransferase activitymembraneEhlers-Danlos syndrome, progeroid typeEhlers-Danlos syndrome, spondylodysplastic typeEhlers-Danlos syndromegenetic disorder
✦AI Summary

B4GALT7 encodes beta-1,4-galactosyltransferase 7, a Golgi transmembrane enzyme essential for proteoglycan biosynthesis 1. The protein catalyzes the critical step of linking glycosaminoglycans to core proteins via tetrasaccharide linker region formation in the extracellular matrix 23. B4GALT7 also participates in heparan sulfate biosynthesis by facilitating UDP-xylose-dependent modifications of heparan sulfate proteoglycans 4. Biallelic B4GALT7 mutations cause spondylodysplastic Ehlers-Danlos syndrome (spEDS-B4GALT7) and Larsen of La RΓ©union Island syndrome, autosomal recessive linkeropathies characterized by skeletal dysplasia, short stature, and joint hypermobility 531. Cardinal features include growth restriction, micromelia, forearm bone abnormalities, large joint dislocations, clubfeet, and characteristic facial dysmorphism 5. Ocular manifestations including corneal clouding, cataracts, and colobomas have been documented 6. Zebrafish models with partial B4galt7 loss demonstrate impaired cartilage development, reduced sulfated glycosaminoglycan levels, and skeletal deformities 1. Beyond inherited disease, B4GALT7 is highly expressed in hepatocellular carcinoma where it promotes tumor cell proliferation, migration, and invasion through Cdc2/CyclinB1 and miR-338-3p/MMP2 pathways, suggesting therapeutic targeting potential 2.

Sources cited
1
B4GALT7 encodes a Golgi transmembrane enzyme critical for proteoglycan linker region formation
PMID: 31862401
2
B4GALT7 catalyzes tetrasaccharide linker formation linking glycosaminoglycans to core proteins
PMID: 38025683
3
B4GALT7 mutations cause proteoglycan synthesis defects associated with growth disorders and Ehlers-Danlos syndrome
PMID: 23956117
4
B4GALT7 participates in heparan sulfate biosynthesis through UDP-xylose-dependent modifications
PMID: 40130891
5
Biallelic B4GALT7 mutations cause spondylodysplastic EDS and Larsen of La RΓ©union Island syndrome with short stature, skeletal dysplasia, and joint dislocations
PMID: 38705458
6
B4GALT7 mutations are associated with ocular anomalies including corneal clouding, cataracts, and colobomas
PMID: 27320698
7
Zebrafish B4galt7 deficiency models show impaired cartilage development and reduced sulfated glycosaminoglycan levels
PMID: 31862401
8
B4GALT7 is highly expressed in hepatocellular carcinoma and promotes tumor cell proliferation and invasion
PMID: 38025683
Disease Associationsβ“˜21
Ehlers-Danlos syndrome, progeroid typeOpen Targets
0.81Strong
Ehlers-Danlos syndrome, spondylodysplastic typeOpen Targets
0.68Moderate
Ehlers-Danlos syndromeOpen Targets
0.42Moderate
genetic disorderOpen Targets
0.41Moderate
spondylodysplastic Ehlers-Danlos syndromeOpen Targets
0.37Weak
skeletal dysplasiaOpen Targets
0.37Weak
Lethal skeletal dysplasiaOpen Targets
0.37Weak
Larsen-like syndrome, B3GAT3 typeOpen Targets
0.26Weak
hepatocellular carcinomaOpen Targets
0.07Suggestive
neoplasmOpen Targets
0.03Suggestive
TinnitusOpen Targets
0.03Suggestive
intelligenceOpen Targets
0.03Suggestive
mathematical abilityOpen Targets
0.02Suggestive
attention deficit hyperactivity disorderOpen Targets
0.02Suggestive
infectionOpen Targets
0.02Suggestive
autism spectrum disorderOpen Targets
0.02Suggestive
ureterolithiasisOpen Targets
0.02Suggestive
urolithiasisOpen Targets
0.02Suggestive
cancerOpen Targets
0.01Suggestive
glioblastoma multiformeOpen Targets
0.01Suggestive
Ehlers-Danlos syndrome, spondylodysplastic type, 1UniProt
Pathogenic Variants24
NM_007255.3(B4GALT7):c.421C>T (p.Arg141Trp)Pathogenic
Ehlers-Danlos syndrome progeroid type|not provided|Ehlers-Danlos syndrome, spondylodysplastic type, 1
β˜…β˜…β˜†β˜†2026β†’ Residue 141
NM_007255.3(B4GALT7):c.277dup (p.His93fs)Pathogenic
Ehlers-Danlos syndrome progeroid type|not provided|Inborn genetic diseases|Ehlers-Danlos syndrome, spondylodysplastic type, 1
β˜…β˜…β˜†β˜†2026β†’ Residue 93
NM_007255.3(B4GALT7):c.808C>T (p.Arg270Cys)Pathogenic
Ehlers-Danlos syndrome progeroid type|not provided|Larsen-like syndrome, B3GAT3 type|Lethal skeletal dysplasia|Ehlers-Danlos syndrome, spondylodysplastic type, 1|Spondylodysplastic Ehlers-Danlos syndrome
β˜…β˜…β˜†β˜†2026β†’ Residue 270
NM_007255.3(B4GALT7):c.242_243del (p.Pro81fs)Pathogenic
Spondylodysplastic Ehlers-Danlos syndrome|Ehlers-Danlos syndrome progeroid type
β˜…β˜…β˜†β˜†2025β†’ Residue 81
NM_007255.3(B4GALT7):c.268del (p.Trp90fs)Pathogenic
not provided|Ehlers-Danlos syndrome progeroid type
β˜…β˜…β˜†β˜†2025β†’ Residue 90
NM_007255.3(B4GALT7):c.397C>T (p.Gln133Ter)Pathogenic
Ehlers-Danlos syndrome progeroid type
β˜…β˜†β˜†β˜†2025β†’ Residue 133
NM_007255.3(B4GALT7):c.39G>A (p.Trp13Ter)Pathogenic
Ehlers-Danlos syndrome progeroid type
β˜…β˜†β˜†β˜†2025β†’ Residue 13
NM_007255.3(B4GALT7):c.557C>A (p.Ala186Asp)Likely pathogenic
Ehlers-Danlos syndrome progeroid type|Spondylodysplastic Ehlers-Danlos syndrome
β˜…β˜†β˜†β˜†2025β†’ Residue 186
NM_007255.3(B4GALT7):c.118_119del (p.Ser40fs)Pathogenic
Ehlers-Danlos syndrome progeroid type
β˜…β˜†β˜†β˜†2025β†’ Residue 40
NM_007255.3(B4GALT7):c.179_413+354delLikely pathogenic
Ehlers-Danlos syndrome progeroid type
β˜…β˜†β˜†β˜†2025
NM_007255.3(B4GALT7):c.448dup (p.Leu150fs)Pathogenic
Ehlers-Danlos syndrome progeroid type
β˜…β˜†β˜†β˜†2025β†’ Residue 150
NM_007255.3(B4GALT7):c.678_679del (p.Glu227fs)Pathogenic
Ehlers-Danlos syndrome progeroid type
β˜…β˜†β˜†β˜†2025β†’ Residue 227
NM_007255.3(B4GALT7):c.50+1G>ALikely pathogenic
Ehlers-Danlos syndrome progeroid type
β˜…β˜†β˜†β˜†2025
NM_007255.3(B4GALT7):c.414-2A>GLikely pathogenic
Ehlers-Danlos syndrome progeroid type
β˜…β˜†β˜†β˜†2025
NM_007255.3(B4GALT7):c.639+1G>ALikely pathogenic
Ehlers-Danlos syndrome progeroid type
β˜…β˜†β˜†β˜†2025
NM_007255.3(B4GALT7):c.225C>A (p.Cys75Ter)Pathogenic
Ehlers-Danlos syndrome progeroid type
β˜…β˜†β˜†β˜†2025β†’ Residue 75
NM_007255.3(B4GALT7):c.325del (p.Leu109fs)Pathogenic
Ehlers-Danlos syndrome progeroid type
β˜…β˜†β˜†β˜†2025β†’ Residue 109
NM_007255.3(B4GALT7):c.579_580del (p.Tyr194fs)Pathogenic
Ehlers-Danlos syndrome progeroid type
β˜…β˜†β˜†β˜†2025β†’ Residue 194
NM_007255.3(B4GALT7):c.474_475del (p.Ile159fs)Pathogenic
Ehlers-Danlos syndrome progeroid type
β˜…β˜†β˜†β˜†2025β†’ Residue 159
NM_007255.3(B4GALT7):c.230dup (p.Glu78fs)Pathogenic
Ehlers-Danlos syndrome progeroid type
β˜…β˜†β˜†β˜†2025β†’ Residue 78
View on ClinVar β†—
Related Genes
XYLT1Protein interaction95%B3GAT3Protein interaction77%SLC35B2Protein interaction75%CHST14Protein interaction73%SLC39A13Protein interaction71%XYLT2Protein interaction69%
Tissue Expression6 tissues
Liver
100%
Ovary
81%
Lung
57%
Bone Marrow
54%
Heart
37%
Brain
26%
Gene Interaction Network
Click a node to explore
B4GALT7XYLT1B3GAT3SLC35B2CHST14SLC39A13XYLT2
PROTEIN STRUCTURE
Preparing viewer…
PDB4IRP Β· 2.10 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
1.23LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.91 [0.68–1.23]
RankingsWhere B4GALT7 stands among ~20K protein-coding genes
  • #9,306of 20,598
    Most Researched46
  • #2,025of 5,498
    Most Pathogenic Variants24
  • #12,932of 17,882
    Most Constrained (LOEUF)1.23
Genes detectedB4GALT7
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Cellular SLC35B4 promotes internalization during influenza A virus entry.
PMID: 40130891
mBio Β· 2025
1.00
2
Prenatal and neonatal phenotype of Larsen of La RΓ©union Island syndrome (B4GALT7-linkeropathy).
PMID: 38705458
Eur J Med Genet Β· 2024
0.90
3
Targeting B4GALT7 suppresses the proliferation, migration and invasion of hepatocellular carcinoma through the Cdc2/CyclinB1 and miR-338-3p/MMP2 pathway.
PMID: 38025683
PeerJ Β· 2023
0.80
4
Redefining the progeroid form of Ehlers-Danlos syndrome: report of the fourth patient with B4GALT7 deficiency and review of the literature.
PMID: 23956117
Am J Med Genet A Β· 2013
0.70
5
Corneal clouding, cataract, and colobomas with a novel missense mutation in B4GALT7-a review of eye anomalies in the linkeropathy syndromes.
PMID: 27320698
Am J Med Genet A Β· 2016
0.60