Twinkle Antibody (1C5): sc-293368

Twinkle Antibody (1C5) is a mouse monoclonal IgG2a kappa light chain antibody that detects Twinkle protein of human origin by western blotting (WB), immunoprecipitation (IP), and enzyme-linked immunosorbent assay (ELISA). Anti-Twinkle antibody (1C5) is available as the non-conjugated form. Twinkle protein, also known as PEO1 (Progressive external ophthalmoplegia 1 protein), PEOA3, SANDO, or TWINL, is a crucial mitochondrial protein that functions as a 5′-3′ nucleotide-dependent DNA helicase, essential for the replication and maintenance of mitochondrial DNA (mtDNA). Located within mitochondrial nucleoids, Twinkle (1C5) monoclonal antibody plays a vital role in regulating mtDNA copy numbers, which is critical for cellular energy production and overall mitochondrial function. Twinkle protein is predominantly expressed in tissues with high energy demands, such as the testis, pancreas, and skeletal muscle, and exists in three isoforms due to alternative splicing events. Mutations in the gene encoding Twinkle can lead to severe mitochondrial disorders, including progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal dominant 3 (PEOA3) and sensory ataxic neuropathy dysarthria and ophthalmoparesis (SANDO). PEOA3 is characterized by symptoms such as ptosis and muscle weakness, while SANDO presents with ophthalmoparesis, dysarthria, and sensory ataxic neuropathies, highlighting the significance of Twinkle in maintaining mitochondrial integrity and function.

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Twinkle Antibody (1C5) References:

1. TWINKLE Has 5' -> 3' DNA helicase activity and is specifically stimulated by mitochondrial single-stranded DNA-binding protein.  |  Korhonen, JA., et al. 2003. J Biol Chem. 278: 48627-32. PMID: 12975372
2. Twinkle and POLG defects enhance age-dependent accumulation of mutations in the control region of mtDNA.  |  Wanrooij, S., et al. 2004. Nucleic Acids Res. 32: 3053-64. PMID: 15181170
3. Twinkle helicase is essential for mtDNA maintenance and regulates mtDNA copy number.  |  Tyynismaa, H., et al. 2004. Hum Mol Genet. 13: 3219-27. PMID: 15509589
4. Expression profiling following local muscle inactivity in humans provides new perspective on diabetes-related genes.  |  Timmons, JA., et al. 2006. Genomics. 87: 165-72. PMID: 16326070
5. Expression of catalytic mutants of the mtDNA helicase Twinkle and polymerase POLG causes distinct replication stalling phenotypes.  |  Wanrooij, S., et al. 2007. Nucleic Acids Res. 35: 3238-51. PMID: 17452351
6. Mild ocular myopathy associated with a novel mutation in mitochondrial twinkle helicase.  |  Rivera, H., et al. 2007. Neuromuscul Disord. 17: 677-80. PMID: 17614277
7. Familial parkinsonism and ophthalmoplegia from a mutation in the mitochondrial DNA helicase twinkle.  |  Baloh, RH., et al. 2007. Arch Neurol. 64: 998-1000. PMID: 17620490
8. Twinkle helicase (PEO1) gene mutation causes mitochondrial DNA depletion.  |  Sarzi, E., et al. 2007. Ann Neurol. 62: 579-87. PMID: 17722119
9. Recessive Twinkle mutations in early onset encephalopathy with mtDNA depletion.  |  Hakonen, AH., et al. 2007. Brain. 130: 3032-40. PMID: 17921179
10. Twinkle-Associated Mitochondrial DNA Depletion.  |  Remtulla, S., et al. 2019. Pediatr Neurol. 90: 61-65. PMID: 30391088
11. TWINKLE and Other Human Mitochondrial DNA Helicases: Structure, Function and Disease.  |  Peter, B. and Falkenberg, M. 2020. Genes (Basel). 11: PMID: 32283748
12. Twinkle artifact in sonographic breast clip visualization.  |  Maggie, BP., et al. 2023. Arch Gynecol Obstet. 307: 2021-2022. PMID: 35829766

Monoclonal antibodies for mammalian and non-mammalian protein targets represent essentially all targets covered by polyclonal antibodies. Over 8,300 of our antibodies are offered as ImmunoCruz^® conjugates which eliminates the need for a secondary antibody.

Santa Cruz Biotechnology antibodies have over 360,000 research citations. Anti-Twinkle Antibody (1C5) has 1 citations in a variety of scientific publications.

Primary antibodies like Anti-Twinkle Antibody (1C5) for mammalian target proteins are recommended for the detection of a range of mammalian species, primarily of mouse, rat and human species. Many mammalian antibodies are also ideal for veterinary research and reactive with ovine, porcine, caprine, feline, canine, bovine and equine protein targets. Santa Cruz Biotechnology primary monoclonal antibodies are suitable for laboratory research applications and are not intended for diagnostic or therapeutic use.

Twinkle Antibody (1C5) Specifications

Alternate Product Name: Twinkle

Product Clone Name: 1C5

Classification: Primary Antibody

Clonality: Monoclonal Antibody

Antibody Isotype: IgG_2a kappa light chain

Amino Acids: 591-684

Epitope Target: Twinkle

Epitope Species: human

Product Reactivity/Detection: Twinkle

Species Reactivity/Detection: human

Additional Mammalian Reactivity: N/A

Additional Non-Mammalian Reactivity: N/A

Applications: WB, IP, ELISA

Vialing Information: Each vial contains 100 µg IgG_2a kappa light chain in 1.0 ml of PBS with < 0.1% sodium azide and 0.1% gelatin

Research Citations: 1 citations in various scientific publications

Available Conjugates/Forms for Twinkle Antibody (1C5): N/A