GYLTL1B encodes glycosyltransferase-like protein LARGE2 gene, which is a paralog of LARGE gene and encodes a glycosyltransferase having β1-3-glucuronosyltransferase activity andα1,3- xylosyltransferase activity. This gene is involved in the synthesis of α−dystroglycan (phosphorylated O-mannose :N-acetylgalactosamine-beta-3-N-acetylglucosamine-beta-4-(phosphate-6-)mannose), synthesizing (Xyla1-3GlcAb1-3)n repeats of disaccharide structure. The O-mannose on this α−dystroglycan has an important role in laminin binding, which is essential for muscle functions.
congenital muscular dystrophy
This page does not indicate all of the enzymatic reaction, and expression of "GYLTL1B".