HS6ST1
Description
The HS6ST1 gene encodes heparan sulfate 6-O-sulfotransferase 1, an enzyme that plays a crucial role in the biosynthesis of heparan sulfate (HS), a complex polysaccharide found on the cell surface and in the extracellular matrix. HS is involved in a wide range of biological processes, including cell signaling, growth factor regulation, and adhesion. HS6ST1 catalyzes the transfer of sulfate groups to the 6-position of N-acetylglucosamine residues in HS, contributing to the diversity and biological activity of this molecule. Variations in HS6ST1 expression and activity have been linked to various human diseases, highlighting its importance in maintaining normal cellular function.
Associated Diseases
- Cancer (e.g., breast cancer, lung cancer)
- Neurodevelopmental disorders (e.g., autism spectrum disorder)
- Cardiovascular diseases (e.g., coronary artery disease)
- Metabolic disorders (e.g., diabetes)
- Inflammatory diseases (e.g., rheumatoid arthritis)
Did you know?
HS6ST1 gene mutations have been associated with a rare genetic disorder called mucopolysaccharidosis type IIIA (Sanfilippo syndrome type A). This disorder is characterized by severe neurological deterioration and developmental delay.
