Synonyms: 2-N-acetylglucosaminyltransferase 1,2-N-acetylglucosaminyltransferase I.2,GnT I.2,GnTI.2,MEB,MGAT 1.2,MGAT1.2,O linked mannose beta1 2 N acetylglucosaminyltransferase,PMGT1,POMGNT 1,POMGnT1,Protein O linked mannose beta 1 2 N acetylglucosaminyltransferase 1,Protein O linked mannose beta1 2 N acetylglucosaminyltransferase,Protein O-linked-mannose beta-1,UDP GlcNAc,UDP GlcNAc:alpha D mannoside beta 1 2 N acetylglucosaminyltransferase I.2,UDP-GlcNAc:alpha-D-mannoside beta-1
Background: This gene encodes a type II transmembrane protein that resides in the Golgi apparatus. It participates in O-mannosyl glycosylation and is specific for alpha linked terminal mannose. Mutations in this gene may be associated with muscle-eye-brain disease and several congenital muscular dystrophies. Alternatively spliced transcript variants that encode different protein isoforms have been described.