ST6GALNAC3

Chr 1

ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 3

Also known as: PRO7177, SIAT7C, ST6GALNACIII, STY

NCBI Gene: 256435 ENSG00000184005 UniProt: Q8NDV1 OMIM: 610133

The protein transfers sialic acid groups to specific carbohydrate structures on glycoproteins and glycolipids, with particular preference for synthesizing ganglioside GD1alpha from GM1b, which is critical for neuronal cell communication and brain function. Biallelic mutations in ST6GALNAC3 cause autosomal recessive intellectual disability with hypotonia and behavioral abnormalities. The gene shows very low constraint against loss-of-function variants, consistent with a recessive inheritance pattern.

OMIM ResearchSummary from RefSeq, UniProt

ST6GALNAC3 belongs to a family of sialyltransferases that transfer sialic acids from CMP-sialic acid to terminal positions of carbohydrate groups in glycoproteins and glycolipids (Lee et al., 1999 [PubMed 10207017]).[supplied by OMIM, Mar 2008]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.96

LOEUF

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Mechanism