ST8SIA6
Chr 10ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6
Also known as: SIA8F, SIAT8-F, SIAT8F, ST8SIA-VI, ST8SiaVI
This gene encodes an alpha-2,8-sialyltransferase that adds sialic acid residues to O-glycans, with the minimal acceptor substrate being NeuAc-alpha-2,3(6)-Gal sequences. Pathogenic variants cause autosomal recessive intellectual developmental disorder with seizures, hypotonia, and brain abnormalities. The gene is not highly constrained against loss-of-function variants, consistent with the recessive inheritance pattern observed in affected individuals.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
ClinVar Variant Classifications
81 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 | 13 | 0 | 13 |
Likely Pathogenic | 0 | 0 | 0 | 0 | 0 |
VUS | 0 | 46 | 8 | 0 | 54 |
Likely Benign | 0 | 1 | 0 | 0 | 1 |
Benign | 0 | 0 | 1 | 0 | 1 |
| Total | 0 | 47 | 22 | 0 | 69 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
ST8SIA6 · 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