ST3GAL5
Chr 2ARST3 beta-galactoside alpha-2,3-sialyltransferase 5
Also known as: SATI, SIAT9, SIATGM3S, SPDRS, ST3Gal V, ST3GalV
This gene encodes a glycosyltransferase that catalyzes the formation of ganglioside GM3 from lactosylceramide, with GM3 participating in cell differentiation, proliferation control, and signal transduction. Mutations cause salt and pepper developmental regression syndrome (also known as Amish infantile epilepsy syndrome) through autosomal recessive inheritance. The pathogenic mechanism involves disrupted ganglioside biosynthesis leading to neurodegeneration and epilepsy.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
ClinVar Variant Classifications
200 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 | 10 | 0 | 4 | 0 | 14 |
Likely Pathogenic | 5 | 0 | 0 | 0 | 5 |
VUS | 1 | 85 | 15 | 0 | 101 |
Likely Benign | 0 | 0 | 22 | 38 | 60 |
Benign | 0 | 0 | 16 | 0 | 16 |
Conflicting | — | 4 | |||
| Total | 16 | 85 | 57 | 38 | 200 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
ST3GAL5 · 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