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[edit | edit source]
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[edit | edit source]
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[edit | edit source]
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[edit | edit source]
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[edit | edit source]
References[edit | edit source]
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