protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
Alias
GNTI.2 | GnT I.2 | LGMD2O | MEB | MGAT1.2 | RP76 | gnT-I.2
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. [provided by RefSeq, Feb 2014].