Xylosyltransferase

Xylosyltransferase is an enzyme that plays a crucial role in the biosynthesis of glycosaminoglycan chains, which are essential components of proteoglycans. There are two known types of this enzyme: Xylosyltransferase I and Xylosyltransferase II.

Function

Xylosyltransferase catalyzes the transfer of a xylose sugar from UDP-xylose to specific serine residues of the core protein. This is the initial step in the biosynthesis of the glycosaminoglycan chains of proteoglycans.

Clinical significance

Mutations in the genes encoding for xylosyltransferase can lead to various medical conditions. For instance, a deficiency in xylosyltransferase can result in Desbuquois dysplasia, a rare genetic disorder characterized by skeletal abnormalities, growth retardation, and advanced bone age.

Xylosyltransferase I

Xylosyltransferase I is encoded by the XYLT1 gene. Mutations in this gene have been associated with Baratela-Scott syndrome, a rare genetic disorder characterized by short stature, facial dysmorphism, and intellectual disability.

Xylosyltransferase II

Xylosyltransferase II is encoded by the XYLT2 gene. Mutations in this gene have been associated with spondyloocular syndrome, a rare genetic disorder characterized by vertebral abnormalities, eye problems, and hearing loss.

See also

• Glycosyltransferase
• Proteoglycan
• Glycosaminoglycan