EOGT, Official Symbol EOGTprovided by HGNC Official Full Name EGF domain specific O-linked N-acetylglucosamine transferaseprovided by HGNC Primary source HGNC:HGNC:28526 See related Ensembl:ENSG00000163378 MIM:614789; AllianceGenome:HGNC:28526 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as AOS4; AER61; EOGT1; C3orf64 Summary 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] Expression Ubiquitous expression in lung (RPKM 8.1), prostate (RPKM 7.4) and 25 other tissues See more Orthologs mouse all