|Other Names||Twinkle protein, mitochondrial, Progressive external ophthalmoplegia 1 protein, T7 gp4-like protein with intramitochondrial nucleoid localization, T7-like mitochondrial DNA helicase, PEO1, C10orf2|
|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 mitochondrial DNA (mtDNA) metabolism. Could function as an adenine nucleotide-dependent DNA helicase. Function inferred to be critical for lifetime maintenance of mtDNA integrity. In vitro, forms in combination with POLG, a processive replication machinery, which can use double-stranded DNA (dsDNA) as template to synthesize single-stranded DNA (ssDNA) molecules. May be a key regulator of mtDNA copy number in mammals.|
|Cellular Location||Mitochondrion matrix, mitochondrion nucleoid. Note=Colocalizes with mtDNA in mitochondrial nucleoids, a nucleoproteins complex consisting of a number of copies of proteins associated with mtDNA, probably involved in mtDNA maintenance and expression|
|Tissue Location||High relative levels in skeletal muscle, testis and pancreas. Lower levels of expression in the heart, brain, placenta, lung, liver, kidney, spleen, thymus, prostate, ovary, small intestine, colon and leukocytes. Expression is coregulated with MRPL43.|
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This gene encodes a hexameric DNA helicase which unwindsshort stretches of double-stranded DNA in the 5' to 3' directionand, along with mitochondrial single-stranded DNA binding proteinand mtDNA polymerase gamma, is thought to play a key role in mtDNAreplication. The protein localizes to the mitochondrial matrix andmitochondrial nucleoids. Mutations in this gene cause infantileonset spinocerebellar ataxia (IOSCA) and progressive externalophthalmoplegia (PEO) and are also associated with severalmitochondrial depletion syndromes. Alternative splicing results inmultiple transcript variants encoding distinct isoforms.
Longley, M.J., et al. J. Biol. Chem. 285(39):29690-29702(2010)Wang, W., et al. Nucleic Acids Res. (2010) In press :Fratter, C., et al. Neurology 74(20):1619-1626(2010)Kruger, J., et al. Mol Neurodegener 5, 8 (2010) :Bohlega, S., et al. Neuromuscul. Disord. 19(12):845-848(2009)
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