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Malignant cells were in most cases weakly stained or negative. Testis cancers showed moderate to strong cytoplasmic immunoreactivity while colorectal, breast, pancreas, prostate, liver and stomach cancers displayed moderate staining in several cases.
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]