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EOGT

Official Full Name
EGF domain specific O-linked N-acetylglucosamine transferase
Organism
Homo sapiens
GeneID
285203
Background
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]
Synonyms
AOS4; AER61; EOGT1; C3orf64;

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