B4GALT6
Chr 18beta-1,4-galactosyltransferase 6
Also known as: B4Gal-T6, beta4Gal-T6
The B4GALT6 protein catalyzes the synthesis of lactosylceramide, which serves as the starting point for ganglioside biosynthesis essential for neuronal maturation, axonal development, and myelin formation in the central nervous system. Mutations cause autosomal recessive spastic paraplegia and progressive myoclonic epilepsy, typically presenting in childhood with spasticity, seizures, and developmental regression. This gene is highly constrained against loss-of-function variants, indicating that complete loss of protein function is likely incompatible with normal development.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Mild missense constraint
ClinVar Variant Classifications
98 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 | 38 | 0 | 38 |
Likely Pathogenic | 0 | 0 | 1 | 0 | 1 |
VUS | 0 | 36 | 11 | 0 | 47 |
Likely Benign | 0 | 0 | 1 | 0 | 1 |
Benign | 0 | 1 | 0 | 0 | 1 |
| Total | 0 | 37 | 51 | 0 | 88 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
B4GALT6 · 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