HS3ST4

Chr 16

heparan sulfate-glucosamine 3-sulfotransferase 4

Also known as: 3-OST-4, 30ST4, 3OST4, h3-OST-4

NCBI Gene: 9951 ENSG00000182601 UniProt: Q9Y661

The HS3ST4 protein is a sulfotransferase enzyme that catalyzes the transfer of sulfate groups to specific glucosamine residues in heparan sulfate, modifying this important cell surface glycosaminoglycan. This gene is highly constrained against loss-of-function variants, but disease-causing mutations and associated clinical phenotypes have not yet been established in humans. Inheritance pattern remains to be determined as pathogenic variants have not been reported.

ResearchSummary from RefSeq, UniProt

This gene encodes the enzyme heparan sulfate D-glucosaminyl 3-O-sulfotransferase 4. This enzyme generates 3-O-sulfated glucosaminyl residues in heparan sulfate. Cell surface heparan sulfate is used as a receptor by herpes simplex virus type 1 (HSV-1), and expression of this gene is thought to play a role in HSV-1 pathogenesis. [provided by RefSeq, Jul 2008]

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)

—

P/LP submissions

—

P/LP missense

0.49

LOEUF

—

Mechanism

Some data sources returned errors (1)