DISEASES

Disease-gene associations mined from literature

Literature on B4GAT1

B4GAT1 [ENSP00000309096]

Beta-1,4-glucuronyltransferase 1; 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 (PubMed:25279699, PubMed:25279697). 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). ECO:0000269|PubMed:23359570, ECO:0000269|PubMed:25279697,

Synonyms:  B4GAT1,  B4GAT1p,  hB4GAT1,  A0A024R5F9,  B3GNT6 ...

Linkouts:  STRING  Pharos  UniProt