Gene Symbol | EOGT |
Entrez Gene ID | 285203 |
Full Name | EGF domain specific O-linked N-acetylglucosamine transferase |
Synonyms | AER61,AOS4,C3orf64,EOGT1 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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]. |
Disorder MIM: | |
Disorder Html: | Adams-Oliver syndrome 4, 615297 (3) |