Twinkle protein, mitochondrial (EC 3.6.4.12; UniProt Q96RR1; also known as Ataxin 8, Mitochondrial twinkle protein, Progressive external ophthalmoplegia 1 protein, T7 gp4-like protein with intramitochondrial nucleoid localization, T7 helicase-related protein with intramitochondrial nucleoid localization, T7-like mitochondrial DNA helicase) is encoded by the EPO1 (also known as ATXN8, C10orf2, IOSCA, MTDPS7, PEO, PEO1, PEOA3, PRLTS5, SANDO, SCA8, TWINL) gene (Gene ID 56662) in human. Mitochondrial DNA (mtDNA) replication involves the catalytic and accessory subunits of DNA polymerase gamma, the mtDNA helicase Twinkle, the mitochondrial single-stranded DNA-binding protein, and the mitochondrial RNA polymerase. Cells expressing Twinkle mutants accumulate double-stranded mtDNA replication intermediates with loss of RNA associated with the lagging strand, consistent with the role of Twinkle in unwinding double-stranded mtDNA. Mutations in the human Twinkle gene (C10orf2) cause autosomal dominant progressive external ophthalmoplegia (PEO), associated with multiple mtDNA deletions.

~77 kDa observed

GST-tagged recombinant protein corresponding to the C-terminal of human Twinkle.

This Anti-Twinkle Antibody, clone 13A10.1 is validated for use in Western Blotting, Immunohistochemistry (Paraffin) for the detection of Twinkle.

Western Blotting Analysis: 0.5 µg/mL from a representative lot detected Twinkle in 10 µg of K562 cell lysate.
Immunohistochemistry Analysis: A 1:50 dilution from a representative lot detected Twinkle in human cerebral cortex and human skeletal muscle tissue.

Format: Purified

Evaluated by Western Blotting in HL-60 cell lysate.

Western Blotting Analysis: 0.5 µg/mL of this antibody detected Twinkle in 10 µg of HL-60 cell lysate.

Concentration: Please refer to lot specific datasheet.