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.
Immunogen Information
Immunogen
Fusion protein of human POMGNT1
Swissprot
Q8WZA1
Synonyms
2-N-acetylglucosaminyltransferase 12-N-acetylglucosaminyltransferase I.2GnT I.2GnTI.2MEBMGAT 1.2MGAT1.2O linked mannose beta1 2 N acetylglucosaminyltransferasePMGT1POMGNT 1POMGnT1Protein O linked mannose beta 1 2 N acetylglucosaminyltransferase