{"symbol":"EOGT","synonyms":["AER61","AOS4","EOGT1","C3ORF64"],"name":"EGF domain-specific O-linked N-acetylglucosamine (GlcNAc) transferase","description":"This gene encodes an enzyme that acts in the lumen of the endoplasmic reticulum to catalyze the transfer of N-acetylglucosamine to serine or threonine residues of extracellular-targeted proteins. This enzyme modifies proteins containing eukaryotic growth factor (EGF)-like domains, including the Notch receptor, thereby regulating developmental signalling. Mutations in this gene have been observed in individuals with Adams-Oliver syndrome 4. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2015]","ncbiEntrezGeneId":285203,"ncbiEntrezGeneUrl":"http://www.ncbi.nlm.nih.gov/gene/285203","proteins":[{"symbol":"EOGT_HUMAN","href":"/api/1.0/protein/EOGT_HUMAN"}],"hgncRootFamilies":[{"name":"Glycosyltransferases","href":"/api/1.0/gene_family/Glycosyltransferases"}]}