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Most cancer tissues were negative but several cases displayed weak to moderate cytoplasmic immunoreactivity. Several cases of squamous cell carcinomas and urothelial cancers were strongly stained.
Weak to moderate cytoplasmic staining in several cases of most cancers. A few cases of colorectal, carcinoid and thyroid cancers were strongly stained. Gliomas, lymphomas, squamous cell carcinomas and renal cell carcinomas were negative or weakly stained.
This gene is thought to play a role in the regulation of myofibrillogenesis. Mutations in this gene have been associated with the movement disorder paroxysmal non-kinesigenic dyskinesia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2010]
Phobius predicted membrane proteins SPOCTOPUS predicted membrane proteins Phobius predicted secreted proteins Predicted intracellular proteins Disease related genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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GO:0004416 [hydroxyacylglutathione hydrolase activity] GO:0005515 [protein binding] GO:0005634 [nucleus] GO:0005739 [mitochondrion] GO:0016020 [membrane] GO:0019243 [methylglyoxal catabolic process to D-lactate via S-lactoyl-glutathione] GO:0032225 [regulation of synaptic transmission, dopaminergic] GO:0042053 [regulation of dopamine metabolic process] GO:0046872 [metal ion binding] GO:0046929 [negative regulation of neurotransmitter secretion] GO:0050884 [neuromuscular process controlling posture]
Phobius predicted membrane proteins SCAMPI predicted membrane proteins TMHMM predicted membrane proteins Phobius predicted secreted proteins Predicted intracellular proteins Disease related genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
