|Other Names||tRNA modification GTPase GTPBP3, mitochondrial, GTP-binding protein 3, Mitochondrial GTP-binding protein 1, GTPBP3, MTGP1|
|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||GTPase involved in the 5-carboxymethylaminomethyl modification (mnm(5)s(2)U34) of the wobble uridine base in mitochondrial tRNAs.|
|Tissue Location||Ubiquitously expressed.|
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This locus encodes a GTP-binding protein. The encodedprotein is localized to the mitochondria and may play a role inmitochondrial tRNA modification. Polymorphisms at this locus may beassociated with severity of aminoglycoside-induced deafness, adisease associated with a mutation in the 12S rRNA. Alternativelyspliced transcript variants encoding different isoforms have beendescribed.
Reiling, E., et al. Eur. J. Hum. Genet. 17(8):1056-1062(2009)Villarroya, M., et al. Mol. Cell. Biol. 28(24):7514-7531(2008)Bykhovskaya, Y., et al. Mol. Genet. Metab. 83(3):199-206(2004)Li, X., et al. Biochem. Biophys. Res. Commun. 312(3):747-754(2003)Li, X., et al. Mol. Cell. Biol. 22(21):7701-7711(2002)
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