Abcam, ab153425, Recombinant Human Twinkle protein

Size: 10µg
Recombinant Human Twinkle protein is a Human Full Length protein, in the 1 to 506 aa range, expressed in Wheat germ, suitable for ELISA, WB.
Key facts
Expression system:Wheat germ,
Tags:GST tag N-Terminus,
Applications:ELISA, WBSee reactivity dataSee the reactivity data table below for information on validated species and application combinations.,
Biologically active:No,
Accession:Q96RR1,
Animal free:No,
Carrier free:No,
Species:Human,
Storage buffer:pH: 8Constituents: 0.79% Tris HCl, 0.31% Glutathione

Properties and Storage Information:
Shipped at conditions-Dry Ice, Appropriate short-term storage conditions--80°C, Appropriate long-term storage conditions--80°C, Aliquoting information-Upon delivery aliquot, Storage information-Avoid freeze / thaw cycle

Supplementary Information:
This supplementary information is collated from multiple sources and compiled automatically.
Twinkle also known as the mitochondrial DNA helicase functions as an essential component in mitochondrial DNA replication. The Twinkle protein unwinds DNA a necessary step for replication. Twinkle has a molecular mass of approximately 80 kDa. Twinkle expresses notably in cells with high energy demands such as muscle cells and neurons indicating its importance in tissues with substantial mitochondrial activity.
Biological function summary
Twinkle facilitates efficient mitochondrial DNA replication by acting within a complex including POLG (the mitochondrial DNA polymerase) and DNA helicase. This action ensures accurate mitochondrial DNA synthesis. Twinkle helps maintain mitochondrial genome stability supporting normal mitochondrial function and energy production.
Pathways
Twinkle plays a fundamental role in the mitochondrial DNA replication pathway. This process is critical for maintaining the genetic material necessary for mitochondrial biogenesis and function. Twinkle acts alongside proteins such as POLG restoring and replicating mitochondrial DNA thereby sustaining cellular energy metabolism and mitochondrial integrity.
Twinkle mutations associate with several mitochondrial DNA depletion syndromes including progressive external ophthalmoplegia and adult-onset multisystem disorders. Dysregulation of Twinkle activity and resulting mitochondrial dysfunction connect to defective POLG activity leading to impaired energy metabolism and associated clinical symptoms. Understanding Twinkle’s role helps to elucidate the molecular basis of these conditions and guides potential therapeutic strategies.