Anti-C10orf2 Rabbit Polyclonal Antibody for WB and ELISA - Q96RR1

Core Product Specifications and Parameters

Biological Background: C10orf2 (Twinkle mtDNA Helicase) Function and Localization

• Encodes the mitochondrial DNA helicase Twinkle, also known as progressive external ophthalmoplegia 1 protein and T7 gp4-like protein with intramitochondrial nucleoid localization, produced by the TWNK (C10orf2/PEO1) gene with multiple alternative splicing variants.
• Essential for mtDNA replication and repair, where it unwinds duplex DNA to facilitate leading-strand synthesis by the POLG–mtSSB replisome complex. Related references: PMID:12975372 PMID:15167897 PMID:17324440 PMID:27226550
• Exhibits preferential unwinding of DNA substrates with 5′- and 3′-single-stranded tails, and also acts on 5′-flap substrates and D-loop structures, including the ability to dissociate invading strands. Related references: PMID:12975372 PMID:15167897 PMID:18039713 PMID:27226550
• Possesses additional DNA strand annealing, strand-exchange, and branch migration activities, expanding its role in mitochondrial genome maintenance. Related references: PMID:22383523 PMID:26887820 PMID:27226550
• An alternatively spliced isoform lacks DNA unwinding and ATP hydrolysis activities and does not bind single- or double-stranded DNA, indicating functional specialization. Related references: PMID:18039713
• Localizes to the mitochondrial matrix, nucleoid, and inner membrane, aligning with its role in mtDNA metabolism.
• Highly expressed in skeletal muscle, testis, and pancreas, with lower levels in heart, brain, liver, kidney, and other tissues; expression is coregulated with MRPL43.
• Associated with mitochondrial diseases including progressive external ophthalmoplegia, sensorineural deafness, and neurodegeneration, as reflected by keywords such as disease variant, neuropathy, and primary mitochondrial disease.

Experimental Guidance and Technical Tips

• The immunogen (aa 135–335) targets the central region of human C10orf2, potentially recognizing full-length and certain truncated isoforms across human, mouse, and rat samples—validate specificity in your experimental system.
• For Western blotting, test whole-cell lysates from skeletal muscle or testis (tissues with high expression) and anticipate a band near 77 kDa; include appropriate positive and negative controls.
• ELISA applications may be optimized using recombinant C10orf2 protein or peptide controls to confirm sensitivity and linear range.
• Consider performing a titration series to determine the optimal antibody dilution for your specific assay and sample type.

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