Full name: EGF domain specific O-linked N-acetylglucosamine transferase

Gene type: protein coding

RefSeq status: REVIEWED

Also known as: AER61; AOS4; C3orf64; EOGT1

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

Gene size: 38460bp

Exon count: 22