ST3GAL4

Chr 11

ST3 beta-galactoside alpha-2,3-sialyltransferase 4

Also known as: CGS23, NANTA3, SAT3, SIAT4, SIAT4C, ST-4, ST3GalA.2, ST3GalIV

NCBI Gene: 6484 ENSG00000110080 UniProt: Q11206

The protein is a beta-galactoside alpha2-3 sialyltransferase that catalyzes terminal sialylation of glycoproteins and glycolipids, playing essential roles in hemostasis through von Willebrand factor sialylation, leukocyte adhesion through selectin-mediated interactions, and ganglioside biosynthesis in peripheral nerve myelin. Mutations cause autosomal recessive intellectual disability with bleeding diathesis, seizures, and neutrophil dysfunction. The gene shows low constraint to loss-of-function mutations, consistent with recessive inheritance patterns.

ResearchSummary from RefSeq, UniProt

This gene encodes a member of the glycosyltransferase 29 family, a group of enzymes involved in protein glycosylation. The encoded protein is targeted to Golgi membranes but may be proteolytically processed and secreted. The gene product may also be involved in the increased expression of sialyl Lewis X antigen seen in inflammatory responses. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]

ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.61

LOEUF

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Mechanism

Some data sources returned errors (1)

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