|Other Names||Transmembrane protein 70, mitochondrial, TMEM70|
|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.|
|Function||Involved in biogenesis of mitochondrial ATP synthase.|
|Cellular Location||Mitochondrion inner membrane; Multi-pass membrane protein|
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This gene likely encodes a mitochondrial membrane protein.The encoded protein may play a role in biogenesis of mitochondrialATP synthase. Mutations in this gene have been associated withneonatal mitochondrial encephalocardiomyopathy due to ATP synthasedeficiency. Alternatively spliced transcript variants have beendescribed.
Bailey, S.D., et al. Diabetes Care 33(10):2250-2253(2010)Karasik, D., et al. J. Bone Miner. Res. 25(7):1555-1563(2010)Honzik, T., et al. Arch. Dis. Child. 95(4):296-301(2010)Davila, S., et al. Genes Immun. 11(3):232-238(2010)Talmud, P.J., et al. Am. J. Hum. Genet. 85(5):628-642(2009)
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