EGF Domain Specific O-Linked N-Acetylglucosamine Transferase; EGF Domain-Specific O-Linked N-Acetylglucosamine (GlcNAc) Transferase; Extracellular O-Linked N-Acetylglucosamine Transferase; AER61 Glycosyltransferase; C3orf64; AER61; EOGT1

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.