| Product Name |
Recombinant Human Twinkle, Mitochondrial (TWINL/TWNK) Protein |
| Product Overview |
This recombinant human Twinkle, Mitochondrial (TWINL/TWNK) protein includes amino acids 384-635aa of the target gene is expressed in E.coli.The protein is supplied in lyophilized form and formulated in PBSprior to lyophilization. |
| Target Uniprot Id |
Q96RR1 |
| Recommended Name |
Twinkle mtDNA helicase |
| Gene Name |
TWNK |
| Synonyms |
PEO; SANDO; PEOA3; PEO1; IOSCA; SCA8; Progressive External Ophthalmoplegia 1; Infantile Onset Spinoc |
| Species |
Human |
| Predicted Molecular Mass |
32 kDa |
| Expression System |
E.coli |
| Expression Range |
384-635aa |
| Tag |
N-6His |
| Purity |
>90% |
| Formulation |
Lyophilized |
| Buffer |
PBS |
| Storage Condition |
1. Store at -20°C/-80°C upon receipt, aliquoting is necessary for mutiple use. 2. Avoid repeated freeze-thaw cycles. 3. Store working aliquots at 4°C for up to one week. 4. In general, protein in liquid form is stable for up to 6 months at -20°C/-80°C. Protein in lyophilized powder form is stable for up to 12 months at -20°C/-80°C. |
| Reconstitution Instruction |
Briefly centrifuged the vial prior to opening to bring the contents to the bottom. Reconstitute protein in deionized sterile water to a concentration of 0.1-1.0 mg/mL. It is recommended to add 5-50% of glycerol (final concentration) and aliquot for long-term storage at -20°C/-80°C. The default final concentration of glycerol is 50%. |
| Applications |
Positive Control; Immunogen; SDS-PAGE; WB |
| Research Area |
Epigenetics And Nuclear Signaling |
| Target Function |
Mitochondrial helicase involved in mtDNA replication and repair. Might have a role in mtDNA repair. Has DNA strand separation activity needed to form a processive replication fork for leading strand synthesis which is catalyzed by the formation of a replisome complex with POLG and mtSDB. Preferentially unwinds DNA substrates with pre-existing 5'-and 3'- single-stranded tails but is also active on a 5'- flap substrate. Can dissociate the invading strand of immobile or mobile D-loop DNA structures irrespective of the single strand polarity of the third strand. In addition to its DNA strand separation activity, also has DNA strand annealing, DNA strand-exchange and DNA branch migration activities.; Lack DNA unwinding and ATP hydrolysis activities. Does not bind single-stranded or double-stranded DNA. |
| Subcellular Location |
Mitochondrion matrix, mitochondrion nucleoid. |
| Associated Diseases |
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 3 (PEOA3); Mitochondrial DNA depletion syndrome 7 (MTDPS7); Perrault syndrome 5 (PRLTS5) |
| Tissue Specificity |
High relative levels in skeletal muscle, testis and pancreas. Lower levels of expression in the heart, brain, placenta, lung, liver, kidney, spleen, thymus, prostate, ovary, small intestine, colon and leukocytes. Expression is coregulated with MRPL43. |
