B4GALT5
Chr 20beta-1,4-galactosyltransferase 5
Also known as: B4Gal-T5, BETA4-GALT-IV, beta4Gal-T5, beta4GalT-V, gt-V
The B4GALT5 protein catalyzes the synthesis of lactosylceramide, which is the starting point for ganglioside biosynthesis essential for neuronal maturation, axonal development, and myelin formation. Mutations cause a rare autosomal recessive disorder characterized by severe developmental delays, intellectual disability, and neurological abnormalities. This gene is highly constrained against loss-of-function variants in the population, reflecting its critical role in nervous system development.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly LoF-intolerant (top ~10% of genes)
Moderately missense-constrained (top ~2.5%)
ClinVar Variant Classifications
52 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 0 | 0 | 6 | 0 | 6 |
Likely Pathogenic | 0 | 0 | 2 | 0 | 2 |
VUS | 0 | 25 | 2 | 0 | 27 |
Likely Benign | 0 | 2 | 0 | 0 | 2 |
Benign | 0 | 0 | 1 | 3 | 4 |
| Total | 0 | 27 | 11 | 3 | 41 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
B4GALT5 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools