ST6GALNAC5

Chr 1

ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 5

Also known as: SIAT7-E, SIAT7E, ST6GalNAcV

NCBI Gene: 81849 ENSG00000117069 UniProt: Q9BVH7 OMIM: 610134

The encoded sialyltransferase catalyzes the biosynthesis of ganglioside GD1alpha from GM1b in the brain by transferring sialic acid to specific glycan structures, with GD1alpha serving as a critical molecule for neuronal cell communication and interactions. Mutations cause autosomal recessive early-onset epileptic encephalopathy and developmental delay, with seizures typically beginning in infancy. The gene shows moderate constraint against loss-of-function variants (LOEUF 0.612), reflecting its importance in normal brain development and function.

OMIM ResearchSummary from RefSeq, UniProt

The protein encoded by this gene is a Golgi type II transmembrane glycosyltransferase. The encoded protein catalyzes the transfer of sialic acid to cell surface proteins to modulate cell-cell interactions. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2016]

OMIM 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