ST8SIA5

Chr 18

ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5

Also known as: SIAT8-E, SIAT8E, ST8SiaV

NCBI Gene: 29906 ENSG00000101638 UniProt: O15466 OMIM: 607162

The protein is a Golgi-localized glycosyltransferase that synthesizes specific gangliosides (GD1c, GT1a, GQ1b, and GT3) from precursor gangliosides. Mutations cause autosomal recessive intellectual disability with seizures and spasticity. The gene shows tolerance to loss-of-function variants in the general population.

OMIM ResearchSummary from RefSeq, UniProt

The protein encoded by this gene is a type II membrane protein that may be present in the Golgi apparatus. The encoded protein, which is a member of glycosyltransferase family 29, may be involved in the synthesis of gangliosides GD1c, GT1a, GQ1b, and GT3 from GD1a, GT1b, GM1b, and GD3, respectively. [provided by RefSeq, Jul 2008]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.85

LOEUF

—

Mechanism