HS3ST6

Chr 16AD

heparan sulfate-glucosamine 3-sulfotransferase 6

Also known as: 3-OST-6, 3OST6, HAE8, HS3ST5

NCBI Gene: 64711 ENSG00000162040 UniProt: Q96QI5 OMIM: 619210

HS3ST6 encodes a heparan sulfate 3-O-sulfotransferase that catalyzes the transfer of sulfate groups to heparan sulfate proteoglycans, modifying their structure and binding properties. Mutations cause hereditary angioedema with autosomal dominant inheritance. The gene shows moderate constraint against loss-of-function variants, suggesting some tolerance to reduced function.

OMIM ResearchSummary from RefSeq, UniProt

Predicted to enable [heparan sulfate]-glucosamine 3-sulfotransferase activity. Predicted to be involved in heparan sulfate proteoglycan biosynthetic process. Predicted to act upstream of or within blastocyst hatching. Predicted to be located in Golgi membrane. Implicated in hereditary angioedema. [provided by Alliance of Genome Resources, Jul 2025]

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

?Angioedema, hereditary, 8MIM #619367

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

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P/LP missense

0.88

LOEUF

GOF

Mechanism· predicted