ST3GAL4
Chr 11ST3 beta-galactoside alpha-2,3-sialyltransferase 4
Also known as: CGS23, NANTA3, SAT3, SIAT4, SIAT4C, ST-4, ST3GalA.2, ST3GalIV
The protein is a beta-galactoside alpha2-3 sialyltransferase that catalyzes terminal sialylation of glycoproteins and glycolipids, playing essential roles in hemostasis through von Willebrand factor sialylation, leukocyte adhesion through selectin-mediated interactions, and ganglioside biosynthesis in peripheral nerve myelin. Mutations cause autosomal recessive intellectual disability with bleeding diathesis, seizures, and neutrophil dysfunction. The gene shows low constraint to loss-of-function mutations, consistent with recessive inheritance patterns.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
ClinVar Variant Classifications
133 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 | 63 | 0 | 63 |
Likely Pathogenic | 0 | 0 | 2 | 0 | 2 |
VUS | 0 | 40 | 5 | 0 | 45 |
Likely Benign | 0 | 3 | 0 | 0 | 3 |
Benign | 0 | 0 | 0 | 3 | 3 |
| Total | 0 | 43 | 70 | 3 | 116 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
ST3GAL4 · 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
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools