Recombinant Human Twinkle Protein, Mitochondrial (TWNK) Protein (His)

Name: Recombinant Human Twinkle Protein, Mitochondrial (TWNK) Protein (His)
Brand: Beta LifeScience
SKU: BLC-10366P
Availability: InStock

Greater than 90% as determined by SDS-PAGE.

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Product Overview

Description	Recombinant Human Twinkle Protein, Mitochondrial (TWNK) Protein (His) is produced by our Yeast expression system. This is a full length protein.
Purity	Greater than 90% as determined by SDS-PAGE.
Uniprotkb	Q96RR1
Target Symbol	TWNK
Synonyms	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
Species	Homo sapiens (Human)
Expression System	Yeast
Tag	N-6His
Target Protein Sequence	APGPPRRRYRKETLQALDMPVLPVTATEIRQYLRGHGIPFQDGHSCLRALSPFAESSQLKGQTGVTTSFSLFIDKTTGHFLCMTSLAEGSWEDFQASVEGRGDGAREGFLLSKAPEFEDSEEVRRIWNRAIPLWELPDQEEVQLADTMFGLTKVTDDTLKRFSVRYLRPARSLVFPWFSPGGSGLRGLKLLEAKCQGDGVSYEETTIPRPSAYHNLFGLPLISRRDAEVVLTSRELDSLALNQSTGLPTLTLPRGTTCLPPALLPYLEQFRRIVFWLGDDLRSWEAAKLFARKLNPKRCFLVRPGDQQPRPLEALNGGFNLSRILRTALPAWHKSIVSFRQLREEVLGELSNVEQAAGLRWSRFPDLNRILKGHRKGELTVFTGPTGSGKTTFISEYALDLCSQGVNTLWGSFEISNVRLARVMLTQFAEGRLEDQLDKYDHWADRFEDLPLYFMTFHGQQSIRTVIDTMQHAVYVYDICHVIIDNLQFMMGHEQLSTDRIAAQDYIIGVFRKFATDNNCHVTLVIHPRKEDDDKELQTASIFGSAKASQEADNVLILQDRKLVTGPGKRYLQVSKNRFDGDVGVFPLEFNKNSLTFSIPPKNKARLKKIKDDTGPVAKKPSSGKKGATTQNSEICSGQAPTPDQPDTSKRSK
Expression Range	32-684aa
Protein Length	Full Length of Mature Protein
Mol. Weight	75.5kDa
Research Area	Epigenetics And Nuclear Signaling
Form	Liquid or Lyophilized powder
Buffer	Liquid form: default storage buffer is Tris/PBS-based buffer, 5%-50% glycerol. Lyophilized powder form: the buffer before lyophilization is Tris/PBS-based buffer, 6% Trehalose, pH 8.0.
Reconstitution	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%.
Storage	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.
Notes	Repeated freezing and thawing is not recommended. Store working aliquots at 4°C for up to one week.

Target Details

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.
Database References	HGNC: 1160 OMIM: 271245 KEGG: hsa:56652 STRING: 9606.ENSP00000309595 UniGene: PMID: 29316893 the newly identified for Perrault syndrome TWNK gene is involved in its pathogenesis. PMID: 28178980 high mtDNA copy number is likely inheritable, which may act as a favorable factor to familial longevity through assuring adequate energy supply. PMID: 27600867 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 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 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 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 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 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 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 Identified compound heterozygous mutations of the C10orf2 gene as the cause of infantile-onset spinocerebellar ataxia with sensorimotor polyneuropathy and myopathy. PMID: 24816431 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 Mutations in Twinkle were linked to Perrault syndrome with neurologic features. PMID: 25355836 Mitochondrial DNA (mtDNA) content plays an important role in energy production and sustaining normal physiological function. PMID: 24524965 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 Overexpression of Twinkle-helicase protects cardiomyocytes from genotoxic stress caused by reactive oxygen species. PMID: 24218554 A homozygous mutation in TWINKLE is the cause of multisystemic failure including renal tubulopathy in three consanguinity siblings. PMID: 23375728 analysis did not reveal disease causing POLG or PEO1 mutations in patients with atypical parkinsonism PMID: 22580846 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 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 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 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 Multimeric unicircular mtDNA molecules are seen in cells expressing Twinkle. PMID: 21540127 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 Disease variants of the human mitochondrial DNA helicase encoded by C10orf2 differentially alter protein stability, nucleotide hydrolysis, and helicase activity. PMID: 20659899 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 Twinkle variations in the linker domain alter cerebral function and further implicate disrupted mitochondrial DNA integrity in the pathogenesis of dementia PMID: 19513767 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 Twinkle appears to be the most common gene associated with adPEO in Australian families. PMID: 12163192 both the mitochondrial transcription factor TFAM and mitochondrial single-stranded DNA-binding protein colocalize with Twinkle in intramitochondrial foci PMID: 12686611 A novel PEO1 mutation in a sporadic PEO patient with multiple mtDNA deletions. PMID: 12872260 mechanism whereby mutations in twinkle result in progressive accumulation of multiple mtDNA deletions in post- mitotic tissues PMID: 15181170 A novel heterozygous A to G transition at nucleotide 955 of C10Orf2 (Twinkle)ws found in siblings with sensory ataxic neuropathy. PMID: 15668446 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 Mitochondrial DNA helicase belongs to the DnaB-like family of replicative DNA helicases. PMID: 17324440 Direct sequencing showed a heteroplasmic mutation at nucleotide 7506 in the dihydrouridine stem of the tRNA(Ser(UCN)) gene. PMID: 17614276 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 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 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 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 The N-terminal part of TWINKLE is required for efficient binding to single-stranded DNA. PMID: 18039713 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 Data show that PEO1 has a major role in determining familial progressive external ophthalmoplegia. PMID: 18575922 MtDNA replication pausing is the consequence of Twinkle mutations that predisposes to progressive external ophthalmoplegia. PMID: 18971204 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 This study widens the mutation spectrum of PEO1 and is the first to report the PEO1 mutation in the Chinese population. PMID: 18989381 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 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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Proteins are sensitive to heat, and freeze-drying can preserve the activity of the majority of proteins. It improves protein stability, extends storage time, and reduces shipping costs. However, freeze-drying can also lead to the loss of the active portion of the protein and cause aggregation and denaturation issues. Nonetheless, these adverse effects can be minimized by incorporating protective agents such as stabilizers, additives, and excipients, and by carefully controlling various lyophilization conditions.

Commonly used protectant include saccharides, polyols, polymers, surfactants, some proteins and amino acids etc. We usually add 8% (mass ratio by volume) of trehalose and mannitol as lyoprotectant. Trehalose can significantly prevent the alter of the protein secondary structure, the extension and aggregation of proteins during freeze-drying process; mannitol is also a universal applied protectant and fillers, which can reduce the aggregation of certain proteins after lyophilization.

Our protein products do not contain carrier protein or other additives (such as bovine serum albumin (BSA), human serum albumin (HSA) and sucrose, etc., and when lyophilized with the solution with the lowest salt content, they often cannot form A white grid structure, but a small amount of protein is deposited in the tube during the freeze-drying process, forming a thin or invisible transparent protein layer.

Reminder: Before opening the tube cap, we recommend that you quickly centrifuge for 20-30 seconds in a small centrifuge, so that the protein attached to the tube cap or the tube wall can be aggregated at the bottom of the tube. Our quality control procedures ensure that each tube contains the correct amount of protein, and although sometimes you can't see the protein powder, the amount of protein in the tube is still very precise.

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Recombinant Human Twinkle Protein, Mitochondrial (TWNK) Protein (His)

Recombinant Human Twinkle Protein, Mitochondrial (TWNK) Protein (His)

Product Overview

Target Details

FAQs