B4GAT1

Chr 11AR

beta-1,4-glucuronyltransferase 1

Also known as: B3GN-T1, B3GNT1, B3GNT6, BETA3GNTI, MDDGA13, iGAT, iGNT

NCBI Gene: 11041ENSG00000174684UniProt: O43505OMIM: 605517

The protein is a beta-1,4-glucuronyltransferase that synthesizes glucuronyl-xylose disaccharide primers essential for O-mannosylation of alpha-dystroglycan, enabling high-affinity binding to laminin and other extracellular matrix proteins. Mutations cause congenital muscular dystrophy-dystroglycanopathy type A13 with brain and eye anomalies, affecting muscle, central nervous system, and ocular development from birth. Inheritance is autosomal recessive.

OMIMResearchSummary from RefSeq, OMIM, UniProt
ARLOEUF 0.801 OMIM phenotype
Clinical Summary— B4GAT1
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Gene-Disease Validity (ClinGen)
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 · ARModerate

Moderate evidence — consider for supplementary testing

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Population Constraint (gnomAD)
Low constraint (pLI 0.01) — loss-of-function variants are relatively tolerated in the population.
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Clinical Trials
1 active or recruiting trial — potential therapeutic options may be available
Explore recent and relevant literature in Research Assistant →

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint
0.80LOEUF
pLI 0.007
Z-score 2.12
OE 0.41 (0.22–0.80)
Tolerant

Typical tolerance to LoF variation

Missense Constraint
1.90Z-score
OE missense 0.66 (0.58–0.75)
161 obs / 244.8 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.41 (0.22–0.80)
0≤0.351.4
Missense OE0.66 (0.58–0.75)
0≤0.61.4
Synonymous OE0.74
0≤1.21.6
LoF obs/exp: 6 / 14.8Missense obs/exp: 161 / 244.8Syn Z: 2.22

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

B4GAT1 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

3D Protein StructureAlphaFold
Clinical Literature
Open Research Assistant →
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 5 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
Top 3 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients