The HS3ST6 gene (HS3ST6 stands for "heparan sulfate glucosamine 3-sulfotransferase 6") is a protein coding gene located on chromosome 16p13.3. The encoded protein, sulfotransferase, 3'-phospho-5'-adenylyl sulfate (PAPS) catalyzes the transfer of a sulfo group to heparan sulfate. Substrate-specific O-sulfation converts non-anticoagulant heparan sulfate to anticoagulant heparan sulfate. This produces an enzyme-modified heparan sulfate that acts as a binding receptor for herpes simplex virus-1 (HSV-1), allowing its entry. The heparan sulfate glucosamine 3-sulfotransferase encoded by this gene is thought to be involved in the glycosaminoglycan biosynthesis process.
HS3ST6 Gene
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Diseases associated with HS3ST6 include:
- Type VIII hereditary angioedema (hereditary angioedema mutation in HS3ST6/ with normal C1inh).
LiteratureThis section has been translated automatically.
- Bork K et al (2021) Novel hereditary angioedema linked with a heparan sulfate 3-O-sulfotransferase 6 gene mutation. J Allergy Clin Immun 148: 1041-1048.
Farkas H et al (2021) Screening for plasminogen mutations in hereditary angioedema patients. Genes (Basel) 12: 402.