{"symbol":"MGAT2","synonyms":["GLCNACTII","GNT2","GNT-II","CDG2A","CDGS2"],"name":"mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase","description":"The product of this gene is a Golgi enzyme catalyzing an essential step in the conversion of oligomannose to complex N-glycans. The enzyme has the typical glycosyltransferase domains: a short N-terminal cytoplasmic domain, a hydrophobic non-cleavable signal-anchor domain, and a C-terminal catalytic domain. Mutations in this gene may lead to carbohydrate-deficient glycoprotein syndrome, type II. The coding region of this gene is intronless. Transcript variants with a spliced 5\u0027 UTR may exist, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]","ncbiEntrezGeneId":4247,"ncbiEntrezGeneUrl":"http://www.ncbi.nlm.nih.gov/gene/4247","proteins":[{"symbol":"MGAT2_HUMAN","href":"/api/1.0/protein/MGAT2_HUMAN"}],"hgncRootFamilies":[{"name":"Glycosyltransferases","href":"/api/1.0/gene_family/Glycosyltransferases"}]}