XYLT2
Description
The XYLT2 (xylosyltransferase 2) is a protein-coding gene located on chromosome 17.
Xylosyltransferase 2 is an enzyme encoded by the XYLT2 gene in humans. It is an isoform of xylosyltransferase, belonging to a family of glycosyltransferases. Xylosyltransferase 2 transfers xylose from UDP-xylose to specific serine residues of the core protein, initiating the biosynthesis of glycosaminoglycan chains in proteoglycans including chondroitin sulfate, heparan sulfate, heparin and dermatan sulfate. Elevated enzyme activity is a diagnostic marker for sclerotic activity in systemic sclerosis. Mutations in the XYLT2 gene cause spondylo-ocular syndrome and have been implicated as a cofactor in pseudoxanthoma elasticum.
XYLT2 is also known as PXYLT2, SOS, XT-II, XT2, xylT-II.
