Literature associating XYLT2 and Miller-Dieker lissencephaly syndrome
Peptide O-xylosyltransferase 1; Involved in the formation of heparan sulfate and chondroitin sulfate proteoglycans. Probably catalyzes the first step in biosynthesis of glycosaminoglycan. Transfers D-xylose from UDP-D-xylose to specific serine residues of the core protein. Initial enzyme in the biosynthesis of chondroitin sulfate and dermatan sulfate proteoglycans in fibroblasts and chondrocytes (By similarity). Its enzyme activity has not been demonstrated; Belongs to the glycosyltransferase 14 family. XylT subfamily.
Synonyms: XYLT2, XYLT2p, hXYLT2, B4DT06, D6RCT0 ...