ST8SIA1

Chr 12

ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 1

Also known as: GD3S, SIAT8, SIAT8-A, SIAT8A, ST8SiaI

NCBI Gene: 6489 ENSG00000111728 UniProt: Q92185

This protein catalyzes the transfer of sialic acid to ganglioside GM3 to produce gangliosides GD3 and GT3, which are essential membrane glycosphingolipids involved in cell adhesion and signaling. Mutations in ST8SIA1 cause autosomal recessive intellectual disability with seizures and spasticity, typically presenting in early childhood. The gene shows moderate constraint against loss-of-function mutations, suggesting some tolerance to reduced protein function.

ResearchSummary from RefSeq, UniProt

Gangliosides are membrane-bound glycosphingolipids containing sialic acid. Ganglioside GD3 is known to be important for cell adhesion and growth of cultured malignant cells. The protein encoded by this gene is a type II membrane protein that catalyzes the transfer of sialic acid from CMP-sialic acid to GM3 to produce gangliosides GD3 and GT3. The encoded protein may be found in the Golgi apparatus and is a member of glycosyltransferase family 29. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2015]

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

0.53

LOEUF

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Mechanism

Some data sources returned errors (1)

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