{"symbol":"POMGNT1","synonyms":["GNTI.2","RP76","MEB","LGMDR15","GNT-I.2","GNT I.2","MGAT1.2","LGMD2O"],"name":"protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)","description":"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]","ncbiEntrezGeneId":55624,"ncbiEntrezGeneUrl":"http://www.ncbi.nlm.nih.gov/gene/55624","proteins":[{"symbol":"PMGT1_HUMAN","href":"/api/1.0/protein/PMGT1_HUMAN"}],"hgncRootFamilies":[{"name":"Glycosyltransferases","href":"/api/1.0/gene_family/Glycosyltransferases"}]}