ST8SIA5
Chr 18ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5
Also known as: SIAT8-E, SIAT8E, ST8SiaV
The protein is a Golgi-localized glycosyltransferase that synthesizes specific gangliosides (GD1c, GT1a, GQ1b, and GT3) from precursor gangliosides. Mutations cause autosomal recessive intellectual disability with seizures and spasticity. The gene shows tolerance to loss-of-function variants in the general population.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
ClinVar Variant Classifications
100 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 | 37 | 0 | 37 |
Likely Pathogenic | 0 | 0 | 1 | 0 | 1 |
VUS | 0 | 48 | 4 | 0 | 52 |
Likely Benign | 0 | 0 | 1 | 0 | 1 |
Benign | 0 | 1 | 0 | 2 | 3 |
| Total | 0 | 49 | 43 | 2 | 94 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
ST8SIA5 · 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 →No open access results found
External Resources
Links to major genomics databases and tools