Disease-gene associations mined from literature

Literature associating B3GNT2 and congenital muscular dystrophy-dystroglycanopathy type A

B3GNT2 [ENSP00000305595]

UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase 7; Beta-1,3-N-acetylglucosaminyltransferase involved in the synthesis of poly-N-acetyllactosamine. Catalyzes the initiation and elongation of poly-N-acetyllactosamine chains. Shows a marked preference for Gal(beta1-4)Glc(NAc)-based acceptors. Probably constitutes the main polylactosamine synthase; Belongs to the glycosyltransferase 31 family.

Synonyms:  B3GNT2,  B3GNT2p,  hB3GNT2,  Q9NY97,  B3GALT7 ...

Linkouts:  STRING  Pharos  UniProt  OMIM