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The HS6ST1 gene encodes the enzyme heparan sulfate 6-O-sulfotransferase 1, which is essential for the biosynthesis of heparan sulfate (HS) glycosaminoglycans by adding sulfate groups to the 6th position of glucosamine residues within HS chains. HS6ST1 is vital for numerous biological processes, including modulating the activity of growth factors, cytokines, and chemokines, which are influenced by HS structures on the cell surface and extracellular matrix. This sulfation step is critical for the proper functioning of developmental pathways and neuronal signaling, impacting brain development and function. Mutations in HS6ST1 have been associated with intellectual disabilities and developmental disorders such as hypogonadotropic hypogonadism and Kallmann syndrome, characterized by impaired sense of smell and delayed puberty. Moreover, altered HS6ST1 expression is implicated in cancer progression by affecting tumor growth, angiogenesis, and metastasis through altered HS interactions with signaling molecules. Its role in modulating receptor-ligand interactions makes HS6ST1 a promising target for therapeutic interventions aimed at repairing defective signaling pathways associated with genetic disorders and cancer.
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Protein Aliases: Heparan-sulfate 6-O-sulfotransferase 1; heparan-sulfate 6-sulfotransferase; HS6ST-1; mHS6ST-1
Gene Aliases: 6Ost1; HH15; HS6ST; HS6ST1
UniProt ID: (Human) O60243, (Mouse) Q9QYK5
Entrez Gene ID: (Human) 9394, (Mouse) 50785, (Rat) 316325
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