|Application ||WB, IHC-P, E|
|Other Accession||NP_001157284.1, NP_068602.2|
|Calculated MW||77154 Da|
|Antigen Region||656-684 aa|
|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|
|Target/Specificity||This C10orf2 antibody is generated from rabbits immunized with a KLH conjugated synthetic peptide between 656-684 amino acids from the C-terminal region of human C10orf2.|
|Format||Purified polyclonal antibody supplied in PBS with 0.09% (W/V) sodium azide. This antibody is purified through a protein A column, followed by peptide affinity purification.|
|Storage||Maintain refrigerated at 2-8°C for up to 2 weeks. For long term storage store at -20°C in small aliquots to prevent freeze-thaw cycles.|
|Precautions||C10orf2 Antibody (C-term) is for research use only and 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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Provided below are standard protocols that you may find useful for product applications.
This gene encodes a hexameric DNA helicase which unwinds short stretches of double-stranded DNA in the 5' to 3' direction and, along with mitochondrial single-stranded DNA binding protein and mtDNA polymerase gamma, is thought to play a key role in mtDNA replication. The protein localizes to the mitochondrial matrix and mitochondrial nucleoids. Mutations in this gene cause infantile onset spinocerebellar ataxia (IOSCA) and progressive external ophthalmoplegia (PEO) and are also associated with several mitochondrial depletion syndromes. Alternative splicing results in multiple 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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