|Other Names||Probable hydrolase PNKD, 3---, Myofibrillogenesis regulator 1, MR-1, Paroxysmal nonkinesiogenic dyskinesia protein, Trans-activated by hepatitis C virus core protein 2, PNKD, KIAA1184, MR1, TAHCCP2|
|Format||Synthetic peptide was lyophilized with 100% acetonitrile and is supplied as a powder. Reconstitute with 0.1 ml DI water for a final concentration of 1 mg/ml.|
|Storage||Maintain refrigerated at 2-8°C for up to 6 months. For long term storage store at -20°C.|
|Precautions||This product is for research use only. Not for use in diagnostic or therapeutic procedures.|
|Synonyms||KIAA1184, MR1, TAHCCP2|
|Function||Probable hydrolase that plays an aggravative role in the development of cardiac hypertrophy via activation of the NF-kappa- B signaling pathway.|
|Cellular Location||Isoform 1: Membrane; Peripheral membrane protein Isoform 3: Mitochondrion.|
|Tissue Location||Isoform 1 is only expressed in the brain. Isoform 2 is ubiquitously detected with highest expression in skeletal muscle and detected in myocardial myofibrils. Variant Val-7 and Val-9 are detected in the brain only|
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This gene is thought to play a role in the regulation ofmyofibrillogenesis. Mutations in this gene have been associatedwith the movement disorder paroxysmal non-kinesigenic dyskinesia.Alternative splicing results in multiple transcript variants.
Yang, J., et al. Neuron 66(6):871-883(2010)Davila, S., et al. Genes Immun. 11(3):232-238(2010)Ghezzi, D., et al. Hum. Mol. Genet. 18(6):1058-1064(2009)Friedman, A., et al. Eur. Neurol. 61(1):39-41(2009)Ren, K., et al. J. Biol. Chem. 283(51):35598-35605(2008)
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