Literature associating POMGNT2 and muscular dystrophy-dystroglycanopathy type B5
POMGNT2 [ENSP00000344125]
Protein O-linked-mannose beta-1,4-N-acetylglucosaminyltransferase 2; O-linked mannose beta-1,4-N-acetylglucosaminyltransferase that transfers UDP-N-acetyl-D-glucosamine to the 4-position of the mannose to generate N-acetyl-D-glucosamine-beta-1,4-O-D- mannosylprotein. Involved 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 (DAG1), which is required for binding laminin G-like domain-containing extracellular proteins with high affinity; Belongs to the glycosyltransferase 61 family.
Synonyms: POMGNT2, POMGNT2p, hPOMGNT2, A0A024R2P4, C3orf39 ...