HS6ST2
HS6ST2 is a gene that encodes the enzyme heparan sulfate 6-O-sulfotransferase 2 in humans. This enzyme is involved in the modification of heparan sulfate, a type of glycosaminoglycan that plays a crucial role in cell-cell communication and interactions with the extracellular matrix.
Function[edit | edit source]
The HS6ST2 gene is responsible for the production of heparan sulfate 6-O-sulfotransferase 2. This enzyme catalyzes the transfer of sulfate groups to the 6-O position of glucosamine residues in heparan sulfate. This modification is important for the function of heparan sulfate, as it influences its ability to bind to various growth factors, chemokines, and morphogens.
Clinical Significance[edit | edit source]
Mutations in the HS6ST2 gene have been associated with several medical conditions. For example, research has suggested a link between HS6ST2 and hypertension, with certain variants of the gene potentially increasing the risk of developing this condition. Additionally, the gene has been implicated in the development of certain types of cancer, including breast cancer and colorectal cancer.
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References[edit | edit source]
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Contributors: Prab R. Tumpati, MD