ST3GAL1
Chr 8ST3 beta-galactoside alpha-2,3-sialyltransferase 1
Also known as: Gal-NAc6S, SIAT4A, SIATFL, ST3GalA, ST3GalA.1, ST3GalIA, 1, ST3O
The ST3GAL1 protein is a sialyltransferase that catalyzes the transfer of sialic acid to galactose-containing glycoproteins and glycolipids, playing a critical role in terminal sialylation of mucin-type O-glycans and regulation of CD8+ T cell survival. Mutations cause autosomal recessive intellectual disability with seizures, developmental delay, and T cell immunodeficiency. The gene shows moderate constraint against loss-of-function variants (LOEUF 0.495), consistent with its essential role in glycosylation and immune function.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Mild missense constraint
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
ST3GAL1 · 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