B4GAT1

Chr 11

beta-1,4-glucuronyltransferase 1

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

NCBI Gene: 11041ENSG00000174684UniProt: O43505

This gene encodes a member of the beta-1,3-N-acetylglucosaminyltransferase family. This enzyme is a type II transmembrane protein. It is essential for the synthesis of poly-N-acetyllactosamine, a determinant for the blood group i antigen. [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtMuscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A13

Clinical highlights

Gene-disease validity (ClinGen)
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 · ARModerateconsider for supplementary testing
1
Active trials
3
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.80
LOEUF
—
Mechanism
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

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 OE?0.41 (0.22–0.80)
0≤0.351.4
Missense OE?0.66 (0.58–0.75)
0≤0.61.4
Synonymous OE?0.74
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.

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