ST3GAL6

Chr 3

ST3 beta-galactoside alpha-2,3-sialyltransferase 6

Also known as: SIAT10, ST3GALVI

NCBI Gene: 10402 ENSG00000064225 UniProt: Q9Y274

This enzyme transfers sialic acid residues to terminal galactose on glycoproteins and glycolipids, synthesizing selectin ligands essential for neutrophil recruitment during inflammation and lymphocyte homing to lymph nodes. Biallelic mutations cause autosomal recessive intellectual disability with seizures and dysmorphic features, typically manifesting in infancy or early childhood. The gene shows very low constraint against loss-of-function variants, consistent with recessive inheritance requiring biallelic mutations for disease manifestation.

ResearchSummary from RefSeq, UniProt

The protein encoded by this gene is a member of the sialyltransferase family. Members of this family are enzymes that transfer sialic acid from the activated cytidine 5'-monophospho-N-acetylneuraminic acid to terminal positions on sialylated glycolipids (gangliosides) or to the N- or O-linked sugar chains of glycoproteins. This protein has high specificity for neolactotetraosylceramide and neolactohexaosylceramide as glycolipid substrates and may contribute to the formation of selectin ligands and sialyl Lewis X, a carbohydrate important for cell-to-cell recognition and a blood group antigen. [provided by RefSeq, Apr 2016]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

1.20

LOEUF

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Mechanism

Some data sources returned errors (1)