GAL3ST2

Chr 2

galactose-3-O-sulfotransferase 2

Also known as: GAL3ST-2, GP3ST

NCBI Gene: 64090 ENSG00000154252 UniProt: Q9H3Q3

The protein encoded by this gene is a galactose-3-O-sulfotransferase that catalyzes the transfer of sulfate groups to terminal beta-galactosyl residues in oligosaccharides, participating in the sulfation of various glycan structures including those found in mucins and cancer antigens. Mutations in GAL3ST2 cause autosomal recessive intellectual disability with early-onset seizures and distinctive dysmorphic features. The gene shows very low constraint against loss-of-function variants (LOEUF 1.89), suggesting tolerance to protein-truncating changes in the general population.

ResearchSummary from RefSeq, UniProt

This gene encodes a member of the galactose-3-O-sulfotransferase protein family. The product of this gene catalyzes sulfonation by transferring a sulfate group to the hydroxyl at C-3 of nonreducing beta-galactosyl residues, and it can act on both type 1 and type 2 (Galbeta 1-3/1-4GlcNAc-R) oligosaccharides with similar efficiencies, and on core 1 glycans. This enzyme has been implicated in tumor metastasis processes. This gene is different from the GAL3ST3 gene located on chromosome 11, which has also been referred to as GAL3ST2 and encodes a related enzyme with distinct tissue distribution and substrate specificities, compared to galactose-3-O-sulfotransferase 2. [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

1.89

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)