Literature associating B3GNT1 and Schuurs-Hoeijmakers Syndrome
N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase; Beta-1,4-glucuronyltransferase involved in O- mannosylation of alpha-dystroglycan (DAG1). Transfers a glucuronic acid (GlcA) residue onto a xylose (Xyl) acceptor to produce the glucuronyl-beta-1,4-xylose-beta disaccharide primer, which is further elongated by LARGE1, during synthesis of phosphorylated O- mannosyl glycan. Phosphorylated O-mannosyl glycan is a carbohydrate is a carbohydrate structure present in alpha-dystroglycan (DAG1), which is required for binding laminin G-like domain-containing extracellular proteins with high affinity. Required for axon guidance; via its function in O-mannosylation of alpha- dystroglycan (DAG1) (By similarity).
Synonyms: B3GNT1, B3GNT1p, hB3GNT1, A0A024R5F9, B3GNT6 ...