HS2ST1
Description
HS2ST1, also known as Heparan Sulfate 2-O-Sulfotransferase 1, is a gene that encodes an enzyme responsible for the sulfation of heparan sulfate (HS), a complex polysaccharide found on the cell surface and in the extracellular matrix. HS sulfation plays a crucial role in various biological processes, including cell signaling, adhesion, growth, and development. The enzyme encoded by HS2ST1 specifically adds sulfate groups to the 2-OH position of iduronic acid residues in HS chains, leading to the formation of 2-O-sulfated HS. This modification is essential for the biological activity of HS and its ability to interact with a wide range of proteins, including growth factors, chemokines, and morphogens.
Associated Diseases
- Hereditary Multiple Exostoses (HME)
- Osteochondromas
- Spondyloepiphyseal Dysplasia
- Spondylocostal Dysostosis
- Cornelia de Lange Syndrome
- Neurodevelopmental Disorders
- Cancer
Did you know?
Mutations in the HS2ST1 gene have been linked to a wide range of developmental abnormalities, including skeletal deformities, craniofacial defects, and mental retardation. The gene‘s role in regulating the development of skeletal structures has significant implications for understanding bone growth and potential therapeutic interventions.
