Disease-gene associations mined from literature

Literature associating POMGNT2 and congenital muscular dystrophy-dystroglycanopathy type A

POMGNT2 [ENSP00000344125]

Protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-); 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.

Synonyms:  POMGNT2,  POMGNT2p,  hPOMGNT2,  A0A024R2P4,  C3ORF39 ...

Linkouts:  STRING  Pharos  UniProt