POMGNT1 Rabbit pAb

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. Synonyma: MEB, RP76, GNTI.2, LGMD2O, GnT I.2, LGMDR15, MGAT1.2, gnT-I.2, POMGNT1