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| Reactivity: | Mouse |
| Applications: | WB, ELISA |
| Host Species: | Rabbit |
| Clonality: | Polyclonal antibody |
| Gene Name: | twinkle mtDNA helicase |
| Gene Symbol: | TWNK |
| Synonyms: | PEO; PEO1; SCA8; ATXN8; IOSCA; PEOA3; SANDO; TWINL; MTDPS7; PRLTS5; C10orf2 |
| Gene ID: | 56652 |
| UniProt ID: | Q96RR1 |
| Immunogen: | A synthetic peptide corresponding to a sequence within amino acids 585-684 of human C10orf2 (NP_068602.2). |
| Dilution: | WB 1:500-1:1000 |
| Purification Method: | Affinity purification |
| Concentration: | 1.73 mg/ml |
| Buffer: | PBS with 0.01% thimerosal, 50% glycerol, pH7.3. |
| Storage: | Store at -20°C. Avoid freeze/thaw cycles. |
| Documents: | Manual-TWNK antibody |
Background
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.
Images
 | Western blot analysis of lysates from mouse kidney, using C10orf2 Rabbit pAb (A13433) at 1:1000 dilution. Secondary antibody: HRP-conjugated Goat anti-Rabbit IgG (H+L) (AS014) at 1:10000 dilution. Lysates/proteins: 25μg per lane. Blocking buffer: 3% nonfat dry milk in TBST. Detection: ECL Basic Kit (RM00020). Exposure time: 30s. |
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