HS3ST1

Chr 4

heparan sulfate-glucosamine 3-sulfotransferase 1

Also known as: 3OST, 3OST1

NCBI Gene: 9957 ENSG00000002587 UniProt: O14792 OMIM: 603244

The protein catalyzes the transfer of sulfate groups to specific glucosamine residues in heparan sulfate and performs the rate-limiting step in anticoagulant heparan sulfate biosynthesis. Mutations cause autosomal recessive developmental and epileptic encephalopathy with severe intellectual disability, typically presenting in infancy. The gene shows tolerance to loss-of-function variants, consistent with the recessive inheritance pattern observed in affected patients.

OMIM ResearchSummary from RefSeq, UniProt

Heparan sulfate biosynthetic enzymes are key components in generating a myriad of distinct heparan sulfate fine structures that carry out multiple biologic activities. The enzyme encoded by this gene is a member of the heparan sulfate biosynthetic enzyme family. It possesses both heparan sulfate glucosaminyl 3-O-sulfotransferase activity, anticoagulant heparan sulfate conversion activity, and is a rate limiting enzyme for synthesis of anticoagulant heparan. This enzyme is an intraluminal Golgi resident protein. [provided by RefSeq, Jul 2008]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

1.11

LOEUF

Multiple*

Mechanism· predicted