LARGE

JCGG-STR018493		JCGG-STR033550

JCGG-STR031571		JCGG-STR033547

JCGG-STR033547		JCGG-STR033548

JCGG-STR033548		JCGG-STR033549

This gene is one of the largest gene in human genome, encoding a glycosyltransferase with activity of β1-3-glucuronic acid transferase and 1,3-xylose transferase. This enzyme is related to synthesis of glycan on α−dystroglycan (phosphorylated O-mannose: N-acetylgalactosamine-beta-3-N-acetylglucosamine-beta-4-(phosphate-6-)mannose) by synthesizing the repeating disaccharide unit of (Xyla1-3GlcAb1-3)n. The O-mannose glycan on α−dystroglycan plays an important role for the binding with laminin, which is important in muscle function. It was clarified that mutation of this gene induces abnormal glycosylation of α−dystroglycan and results in MDC1D, one of congenital muscular dystrophy. Transfer reaction of GlcA ([GlcAb1-4Xyla1-R), the origin of the repeating disaccharide unit ([Xyla1-3GlcAb1-4]n) synthesized by LARGE/LARGE2, is related to B4GAT1.
congenital muscular dystrophy dystroglycanopathy phosphorylated O-mannosyl glycan α-dystroglycan α1,3-xylose transferase β1,3-glucuronic acid transferase

Glc	Man	Gal	GlcNAc	GalNAc	Fuc	Xyl	Neu5Ac	Neu5Gc	GlcA	IdoA	GlcN