DISEASES

Disease-gene associations mined from literature

Literature associating POMGNT2 and muscular dystrophy-dystroglycanopathy type B1

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 ...

Linkouts:  STRING  Pharos  UniProt