DISEASES

Disease-gene associations mined from literature

Literature on B3GALNT2

B3GALNT2 [ENSP00000355559]

UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 2; Beta-1,3-N-acetylgalactosaminyltransferase that synthesizes a unique carbohydrate structure, GalNAc-beta-1-3GlcNAc, on N- and O- glycans. Has no galactose nor galactosaminyl transferase activity toward any acceptor substrate. Involved in alpha-dystroglycan (DAG1) glycosylation: acts coordinately with GTDC2/POMGnT2 to synthesize a GalNAc-beta3-GlcNAc-beta-terminus at the 4-position of protein O- mannose in the biosynthesis of the phosphorylated O-mannosyl trisaccharide (N-acetylgalactosamine-beta-3-N-acetylglucosamine-beta-4- (phosphate-6-)mannose), a carbohydrate structure present in alpha- dystroglycan, which is required for binding laminin G-like domain- containing extracellular proteins with high affinity.

Synonyms:  B3GALNT2,  A0A087WY64,  Q8NCR0,  Q8NCR0p,  hQ8NCR0 ...

Linkouts:  STRING  Pharos  UniProt  OMIM