ST6GALNAC5
Chr 1ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 5
Also known as: SIAT7-E, SIAT7E, ST6GalNAcV
The encoded sialyltransferase catalyzes the biosynthesis of ganglioside GD1alpha from GM1b in the brain by transferring sialic acid to specific glycan structures, with GD1alpha serving as a critical molecule for neuronal cell communication and interactions. Mutations cause autosomal recessive early-onset epileptic encephalopathy and developmental delay, with seizures typically beginning in infancy. The gene shows moderate constraint against loss-of-function variants (LOEUF 0.612), reflecting its importance in normal brain development and function.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
ClinVar Variant Classifications
88 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 | 1 | 0 | 16 | 0 | 17 |
Likely Pathogenic | 0 | 0 | 2 | 0 | 2 |
VUS | 1 | 54 | 7 | 0 | 62 |
Likely Benign | 0 | 0 | 0 | 0 | 0 |
Benign | 0 | 0 | 1 | 1 | 2 |
| Total | 2 | 54 | 26 | 1 | 83 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
ST6GALNAC5 · 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
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
External Resources
Links to major genomics databases and tools