Recombinant Human Twinkle mtDNA helicase (TWNK)

中文名稱：

人TWNK重組蛋白
貨號：

CSB-YP842754HU
說明書：

MSDS Datasheet
規格：

￥1500
圖片：
(Tris-Glycine gel) Discontinuous SDS-PAGE (reduced) with 5% enrichment gel and 15% separation gel.
其他：

產品詳情
產品評價
相關產品
靶點詳情

產品詳情

純度：

Greater than 90% as determined by SDS-PAGE.
基因名：

TWNK
Uniprot No.：

Q96RR1
別名：

Ataxin 8; Ataxin8; ATXN 8; ATXN8; C10 orf2 ; C10orf 2 ; C10orf2; Chromosome 10 open reading frame 2; IOSCA; mitochondrial; MTDPS7; PEO 1; PEO; PEO1; PEO1_HUMAN; PEOA3; Progressive external ophthalmoplegia 1 protein; SANDO; SCA 8; SCA8; T7 gp4 like protein with intramitochondrial nucleoid localization; T7 gp4-like protein with intramitochondrial nucleoid localization; T7 helicase-related protein with intramitochondrial nucleoid localization; T7 like mitochondrial DNA helicase; T7-like mitochondrial DNA helicase; Twinkle protein; Twinkle protein, mitochondrial; TWINL
種屬：

Homo sapiens (Human)
蛋白長度：

Full Length of Mature Protein
來源：

Yeast
分子量：

75.5kDa
表達區域：

32-684aa
氨基酸序列

APGPPRRRYRKETLQALDMPVLPVTATEIRQYLRGHGIPFQDGHSCLRALSPFAESSQLKGQTGVTTSFSLFIDKTTGHFLCMTSLAEGSWEDFQASVEGRGDGAREGFLLSKAPEFEDSEEVRRIWNRAIPLWELPDQEEVQLADTMFGLTKVTDDTLKRFSVRYLRPARSLVFPWFSPGGSGLRGLKLLEAKCQGDGVSYEETTIPRPSAYHNLFGLPLISRRDAEVVLTSRELDSLALNQSTGLPTLTLPRGTTCLPPALLPYLEQFRRIVFWLGDDLRSWEAAKLFARKLNPKRCFLVRPGDQQPRPLEALNGGFNLSRILRTALPAWHKSIVSFRQLREEVLGELSNVEQAAGLRWSRFPDLNRILKGHRKGELTVFTGPTGSGKTTFISEYALDLCSQGVNTLWGSFEISNVRLARVMLTQFAEGRLEDQLDKYDHWADRFEDLPLYFMTFHGQQSIRTVIDTMQHAVYVYDICHVIIDNLQFMMGHEQLSTDRIAAQDYIIGVFRKFATDNNCHVTLVIHPRKEDDDKELQTASIFGSAKASQEADNVLILQDRKLVTGPGKRYLQVSKNRFDGDVGVFPLEFNKNSLTFSIPPKNKARLKKIKDDTGPVAKKPSSGKKGATTQNSEICSGQAPTPDQPDTSKRSK
Note: The complete sequence may include tag sequence, target protein sequence, linker sequence and extra sequence that is translated with the protein sequence for the purpose(s) of secretion, stability, solubility, etc.
If the exact amino acid sequence of this recombinant protein is critical to your application, please explicitly request the full and complete sequence of this protein before ordering.
蛋白標簽：

N-terminal 6xHis-tagged
產品提供形式：

Liquid or Lyophilized powder Warning: in_array() expects parameter 2 to be array, null given in /www/web/cusabio_cn/public_html/caches/caches_template/default/content/show_product_protein.php on line 662
Note: We will preferentially ship the format that we have in stock, however, if you have any special requirement for the format, please remark your requirement when placing the order, we will prepare according to your demand.
緩沖液：

If the delivery form is liquid, the default storage buffer is Tris/PBS-based buffer, 5%-50% glycerol.
Note: If you have any special requirement for the glycerol content, please remark when you place the order.
If the delivery form is lyophilized powder, the buffer before lyophilization is Tris/PBS-based buffer, 6% Trehalose.
儲存條件：

Store at -20°C/-80°C upon receipt, aliquoting is necessary for mutiple use. Avoid repeated freeze-thaw cycles.
保質期：

The shelf life is related to many factors, storage state, buffer ingredients, storage temperature and the stability of the protein itself.
Generally, the shelf life of liquid form is 6 months at -20°C/-80°C. The shelf life of lyophilized form is 12 months at -20°C/-80°C.
貨期：

Basically, we can dispatch the products out in 1-3 working days after receiving your orders. Delivery time may differ from different purchasing way or location, please kindly consult your local distributors for specific delivery time.
Note: All of our proteins are default shipped with normal blue ice packs, if you request to ship with dry ice, please communicate with us in advance and extra fees will be charged.
注意事項：

Repeated freezing and thawing is not recommended. Store working aliquots at 4°C for up to one week.
Datasheet & COA：

Please contact us to get it.

產品評價

靶點詳情

功能：

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.
基因功能參考文獻：
1. A German cohort of 440 patients undergoing analysis for spinocerebellar ataxia (SCA) diagnosis was screened for DNA repeat expansions in SCA8, SCA10, SCA12, SCA36, FXTAS as well as for the pathogenic hexanucleotide repeat in the C9orf72 gene. Results found five patients showed 92 or more SCA8 CTA/CTG combined repeats. PMID: 29316893
2. the newly identified for Perrault syndrome TWNK gene is involved in its pathogenesis. PMID: 28178980
3. high mtDNA copy number is likely inheritable, which may act as a favorable factor to familial longevity through assuring adequate energy supply. PMID: 27600867
4. Four DNA modifying activities of TWINKLE: strand-separation, strand-annealing, strand-exchange and branch migration suggest a dual role of TWINKLE in mitochondrial DNA maintenance. PMID: 26887820
5. ere we present eight families affected by Perrault syndrome. In five families we identified novel or previously reported variants in HSD17B4, LARS2, CLPP and C10orf2 PMID: 26970254
6. It has been demonstrated that MTERF1 arrests mitochondrial DNA (mtDNA) replication with distinct polarity whereby MTERF1 acts as a directional contra-helicase, blocking mtDNA unwinding by the mitochondrial helicase TWINKLE. PMID: 27112570
7. studies shed new insight on the catalytic functions of Twinkle on the key DNA structures it would encounter during replication or possibly repair of the mitochondrial genome and how well it tolerates potential roadblocks to DNA unwinding PMID: 27226550
8. sequencing coding regions of C10orf2 revealed three variants in three different patients, of which two were novel (c.1964G>A/p.G655D; c.204G>A/p.G68G) variants and one was reported (c.1052A>G/p. N351S). PMID: 26689116
9. We identified a missense mutation in c10orf2 in an Iranian family with an association to progressive external ophthalmoplegia, myopathy, dysphagia, dysphonia, and behavior change. Early death was also a novel feature in affected family members. PMID: 26838077
10. An electron microscopy model of Twinkle reveals a hexameric two-layered ring comprising the zinc-binding domain and RNA polymerase domain in one layer and the RecA-like hexamerization C-terminal domain in another. PMID: 25824949
11. Identified compound heterozygous mutations of the C10orf2 gene as the cause of infantile-onset spinocerebellar ataxia with sensorimotor polyneuropathy and myopathy. PMID: 24816431
12. The mitochondrial replicative helicase Twinkle inefficiently unwinds well characterized intermolecular and intramolecular G-quadruplex DNA substrates, as well as a unimolecular G4 substrate. PMID: 25193669
13. Mutations in Twinkle were linked to Perrault syndrome with neurologic features. PMID: 25355836
14. Mitochondrial DNA (mtDNA) content plays an important role in energy production and sustaining normal physiological function. PMID: 24524965
15. 16-year follow-up of autosomal dominant progressive external ophthalmoplegia (adPEO) due to the p.R357P gene mutation in PEO1; adPEO due to this mutation is a late-onset ocular myopathy beginning with ptosis and progressing slowly; ophthalmoparesis, if present, is mild PMID: 24018892
16. Overexpression of Twinkle-helicase protects cardiomyocytes from genotoxic stress caused by reactive oxygen species. PMID: 24218554
17. A homozygous mutation in TWINKLE is the cause of multisystemic failure including renal tubulopathy in three consanguinity siblings. PMID: 23375728
18. analysis did not reveal disease causing POLG or PEO1 mutations in patients with atypical parkinsonism PMID: 22580846
19. Overexpression of d-mtDNA helicase containing either the K388A or A442P mutations causes a mitochondrial oxidative phosphorylation (OXPHOS) defect that significantly reduces cell proliferation. PMID: 22952820
20. A novel homozygous missense mutation c.1366C>G (L456V) in C10orf2 (the Twinkle gene) was identified in a family with infantile onset spinocerebellar ataxia. PMID: 22353293
21. the strand annealing activity of TWINKLE may play a role in recombination-mediated replication initiation found in the mitochondria of mammalian brain and heart or in replication fork regression during repair of damaged DNA replication forks. PMID: 22383523
22. PEO1 sequencing discloses novel mutations in exons 1 and 4 of the gene in chronic external ophthalmoplegia; this is the first report of a mutation occurring in exon 4. PMID: 21689831
23. Multimeric unicircular mtDNA molecules are seen in cells expressing Twinkle. PMID: 21540127
24. We present a new French family of whom two members displayed autosomal dominant progressive external ophthalmoplegia associated with the R374Q mutation of the Twinkle gene PMID: 20880070
25. Disease variants of the human mitochondrial DNA helicase encoded by C10orf2 differentially alter protein stability, nucleotide hydrolysis, and helicase activity. PMID: 20659899
26. Our data suggest a shared clinical phenotype with variable mild multiorgan involvement, and that the contribution of PEO1 mutations as a cause of autosomal dominant progressive external ophthalmoplegia may well be underestimated. PMID: 20479361
27. Twinkle variations in the linker domain alter cerebral function and further implicate disrupted mitochondrial DNA integrity in the pathogenesis of dementia PMID: 19513767
28. study of a Saudi Arabian family with autosomal dominant progressive external ophthalmoplegia & late onset multi-organ failure caused by a novel PEO1/Twinkle mutation (1078C > G + 1079T > G double nucleotide change predicting a Leu360Gly substitution) PMID: 19853444
29. Twinkle appears to be the most common gene associated with adPEO in Australian families. PMID: 12163192
30. both the mitochondrial transcription factor TFAM and mitochondrial single-stranded DNA-binding protein colocalize with Twinkle in intramitochondrial foci PMID: 12686611
31. A novel PEO1 mutation in a sporadic PEO patient with multiple mtDNA deletions. PMID: 12872260
32. mechanism whereby mutations in twinkle result in progressive accumulation of multiple mtDNA deletions in post- mitotic tissues PMID: 15181170
33. A novel heterozygous A to G transition at nucleotide 955 of C10Orf2 (Twinkle)ws found in siblings with sensory ataxic neuropathy. PMID: 15668446
34. the severe neurological phenotype observed in infantile onset spinocerebellar ataxia, suggests that the mutated Twinky and Twinkle play a crucial role in the maintenance and/or function of specific affected neuronal subpopulations [twinky] PMID: 16135556
35. Mitochondrial DNA helicase belongs to the DnaB-like family of replicative DNA helicases. PMID: 17324440
36. Direct sequencing showed a heteroplasmic mutation at nucleotide 7506 in the dihydrouridine stem of the tRNA(Ser(UCN)) gene. PMID: 17614276
37. We report a Spanish family showing a mild phenotype characterized by autosomal dominant ocular myopathy and morphological signs of mitochondrial dysfunction, that harboured a novel(p.R357P) mutation in the hot-spot linker region of the twinkle protein. PMID: 17614277
38. This finding broadens the clinical spectrum of Twinkle gene mutations and further implicates loss of mitochondrial DNA integrity in the pathogenesis of Parkinson disease. PMID: 17620490
39. Identifying other Twinkle mutations in mitochondrial DNA depletion and/or autosomal dominant progressive external ophthalmoplegia and studying their impact on proteins should help in understanding why some mutations are recessive and others are dominant. PMID: 17722119
40. study reports a new phenotype in two siblings with compound heterozygous Twinkle mutations (A318T and Y508C), characterized by severe early onset encephalopathy and signs of liver involvement PMID: 17921179
41. The N-terminal part of TWINKLE is required for efficient binding to single-stranded DNA. PMID: 18039713
42. We describe a new de novo mutation (1110C>A) in the PEO1 gene in patients with Ophthalmoplegia, Chronic Progressive External in a mother and her two sons. PMID: 18396044
43. Data show that PEO1 has a major role in determining familial progressive external ophthalmoplegia. PMID: 18575922
44. MtDNA replication pausing is the consequence of Twinkle mutations that predisposes to progressive external ophthalmoplegia. PMID: 18971204
45. A heterozygous mutation predicting a R334Q substitution in Twinkle was associated with progressive external opthalmoplegia and/or Parkinsonism in several members of a family. PMID: 18973250
46. This study widens the mutation spectrum of PEO1 and is the first to report the PEO1 mutation in the Chinese population. PMID: 18989381
47. Association of the T(-365)C POLG1, G(-25)A ANT1 and G(-605)T PEO1 gene polymorphisms with diabetic polyneuropathy in patients with type 1 diabetes mellitus PMID: 19425506
48. heterozygous c.907C>T (p.R303W) mutation found in the N-terminal domain of the human mitochondrial DNA helicase, Twinkle protein, associated with phenotypically mild autosomal dominant progressive external ophthalmoplegia PMID: 19428252
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相關疾病：

Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 3 (PEOA3); Mitochondrial DNA depletion syndrome 7 (MTDPS7); Perrault syndrome 5 (PRLTS5)
亞細胞定位：

Mitochondrion matrix, mitochondrion nucleoid.
組織特異性：

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.
數據庫鏈接：

HGNC: 1160

OMIM: 271245

KEGG: hsa:56652

STRING: 9606.ENSP00000309595

UniGene: Hs.22678