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Moderate to strong often granular cytoplasmic immunoreactivity was observed in cancer tissues. Most skin, hepatocellular and renal cancers were weakly stained or negative.
Several cases of coloreactal cancers, malignant melanomas and testicular seminomas showed strong cytoplasmic positivity while most cancers in ovaries, breast, urothelium and non Hodgkins lymphomas showed weak to moderate positivity. Remaining cancer tissues were weakly stained or negative.
The protein encoded by this gene belongs to the class-II aminoacyl-tRNA synthetase family. It is a mitochondrial enzyme that specifically aminoacylates aspartyl-tRNA. Mutations in this gene are associated with leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL). [provided by RefSeq, Nov 2009]
Enzymes ENZYME proteins Ligase Predicted intracellular proteins Disease related genes Potential drug targets Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)