XYLT1

Description

The XYLT1 gene, located on chromosome 19, encodes for an enzyme called xylosyltransferase I. This enzyme plays a crucial role in the biosynthesis of glycosaminoglycans (GAGs), long, unbranched polysaccharide chains that are vital components of the extracellular matrix. XYLT1 initiates the attachment of GAGs to core proteins, forming proteoglycans. These proteoglycans are essential for a wide range of cellular functions, including cell adhesion, signaling, and tissue development.

Associated Diseases

• Ehlers-Danlos syndrome (EDS)
• Spondyloepiphyseal dysplasia (SED)
• Mucopolysaccharidosis (MPS)
• Osteogenesis imperfecta (OI)

Did you know?

Mutations in the XYLT1 gene can lead to a variety of skeletal and connective tissue disorders, highlighting its importance in maintaining tissue integrity.