Catalog No.
YHK03601
Expression system
E. coli
Species
Homo sapiens (Human)
Protein length
Val384-Lys635
Predicted molecular weight
31.05 kDa
Nature
Recombinant
Endotoxin level
Please contact with the lab for this information.
Purity
>90% as determined by SDS-PAGE.
Accession
Q96RR1
Applications
ELISA, Immunogen, SDS-PAGE, WB, Bioactivity testing in progress
Form
Lyophilized
Storage buffer
Lyophilized from a solution in PBS pH 7.4, 0.02% NLS, 1mM EDTA, 4% Trehalose, 1% Mannitol.
Reconstitution
Reconstitute in sterile water for a stock solution. A copy of datasheet will be provided with the products, please refer to it for details.
Shipping
In general, proteins are provided as lyophilized powder/frozen liquid. They are shipped out with dry ice/blue ice unless customers require otherwise.
Stability and Storage
Use a manual defrost freezer and avoid repeated freeze thaw cycles. Store at 2 to 8°C for frequent use. Store at -20 to -80°C for twelve months from the date of receipt.
Alternative Names
PEO1, Twinkle mtDNA helicase, Progressive external ophthalmoplegia 1 protein, T7-like mitochondrial DNA helicase, TWNK, T7 gp4-like protein with intramitochondrial nucleoid localization, C10orf2, Twinkle protein, mitochondrial
Heterogeneous Group of Genetically Determined Auditory Neuropathy Spectrum Disorders., PMID:39684270
Analysis of mitochondrial DNA replisome in autism spectrum disorder: Exploring the role of replisome genes., PMID:39611328
Resolving Phenotypic Variability in Mitochondrial Diseases: Preliminary Findings of a Proteomic Approach., PMID:39409059
Mitochondrial DNA mutations attenuate Bleomycin-induced dermal fibrosis by inhibiting differentiation into myofibroblasts., PMID:39009171
A homozygous mutation of TWNK identified in premature ovarian insufficiency warns of late-onset perrault syndrome., PMID:38852317
Teaching Video NeuroImage: TWNK Mutation Causes Chronic Progressive External Ophthalmoplegia and Cerebellar Ataxia: A POLG-Like Phenotype., PMID:38315955
Generation of the human induced pluripotent stem cell line PUMCi005-A from a patient with Perrault syndrome., PMID:38295749
Axonal polyneuropathy and ataxia in children: consider Perrault Syndrome, a case report., PMID:37932750
ATFS-1 counteracts mitochondrial DNA damage by promoting repair over transcription., PMID:37460695
Penetrance of pathogenic genetic variants associated with premature ovarian insufficiency., PMID:37349538
Reply to: "Lack of Association between TWNK Rare Variants and Parkinson's Disease in a Chinese Cohort"., PMID:37061879
Lack of Association between TWNK Rare Variants and Parkinson's Disease in a Chinese Cohort., PMID:37061877
Ataxia and Hypogonadism: a Review of the Associated Genes and Syndromes., PMID:36997834
The N-terminal domain of human mitochondrial helicase Twinkle has DNA-binding activity crucial for supporting processive DNA synthesis by polymerase γ., PMID:36528058
Reply to: No Association between Rare TWNK Variants and Parkinson's Disease in European Cohorts., PMID:36373941
Whole-exome sequencing in 415,422 individuals identifies rare variants associated with mitochondrial DNA copy number., PMID:36311265
Rare Gene Mutations in Romanian Hypoacusis Patients: Case Series and a Review of the Literature., PMID:36143929
Structural insight and characterization of human Twinkle helicase in mitochondrial disease., PMID:35914129
Quercetin Protects Ethanol-Induced Hepatocyte Pyroptosis via Scavenging Mitochondrial ROS and Promoting PGC-1α-Regulated Mitochondrial Homeostasis in L02 Cells., PMID:35879991
TWNK in Parkinson's Disease: A Movement Disorder and Mitochondrial Disease Center Perspective Study., PMID:35792653
Inactivity of Peptidase ClpP Causes Primary Accumulation of Mitochondrial Disaggregase ClpX with Its Interacting Nucleoid Proteins, and of mtDNA., PMID:34943861
Genetics of ovarian insufficiency and defects of folliculogenesis., PMID:34794894
TFAM knockdown-triggered mtDNA-nucleoid aggregation and a decrease in mtDNA copy number induce the reorganization of nucleoid populations and mitochondria-associated ER-membrane contacts., PMID:34622037
New insights into Perrault syndrome, a clinically and genetically heterogeneous disorder., PMID:34338890
Stimulation of Variant Forms of the Mitochondrial DNA Helicase Twinkle by the Mitochondrial Single-Stranded DNA-Binding Protein., PMID:33847968
Mitochondrial DNA maintenance disorders in 102 patients from different parts of Russia: Mutational spectrum and phenotypes., PMID:33486010
Progressive External Ophthalmoplegia in Polish Patients-From Clinical Evaluation to Genetic Confirmation., PMID:33396418
Consequences of compromised mitochondrial genome integrity., PMID:33087282
Twinkle-associated familial parkinsonism with Lewy pathology: Cause or predisposition?, PMID:32847958
Mitochondrial spongiotic brain disease: astrocytic stress and harmful rapamycin and ketosis effect., PMID:32737078
Transcriptional Activity and Stability of CD39+CD103+CD8+ T Cells in Human High-Grade Endometrial Cancer., PMID:32471032
LARS2-Perrault syndrome: a new case report and literature review., PMID:32423379
Characteristics of globus pallidus internus local field potentials in generalized dystonia patients with TWNK mutation., PMID:32387964
TWINKLE and Other Human Mitochondrial DNA Helicases: Structure, Function and Disease., PMID:32283748
A novel mutation of Twinkle in Perrault syndrome: A not rare diagnosis?, PMID:32281099
Middle-age-onset cerebellar ataxia caused by a homozygous TWNK variant: a case report., PMID:32234020
Single-molecule level structural dynamics of DNA unwinding by human mitochondrial Twinkle helicase., PMID:32213598
Clinical, pathological and genetic spectrum in 89 cases of mitochondrial progressive external ophthalmoplegia., PMID:32161153
Broadening the phenotype of the TWNK gene associated Perrault syndrome., PMID:31852434
Homozygous Mutation in TWNK Cases Ataxia, Sensorineural Hearing Loss and Optic Nerve Atrophy., PMID:31823625
Identification of a novel heterozygous guanosine monophosphate reductase (GMPR) variant in a patient with a late-onset disorder of mitochondrial DNA maintenance., PMID:31600844
Perrault syndrome with neurological features in a compound heterozygote for two TWNK mutations: overlap of TWNK-related recessive disorders., PMID:31455392
Whole exome sequencing reveals two novel compound heterozygous mutations in TWNK as a cause of the hepatocerebral form of mitochondrial DNA depletion syndrome: a case report., PMID:31455269
Mitochondrial Dysfunction in Primary Ovarian Insufficiency., PMID:31393557
Respiratory chain inactivation links cartilage-mediated growth retardation to mitochondrial diseases., PMID:31085560
[Phenotype and genotype of twelve Chinese children with mitochondrial DNA depletion syndromes]., PMID:30818899
Expanding phenotype of mitochondrial depletion syndrome in association with TWNK mutations., PMID:30799093
Mitochondrial RNA granules are critically dependent on mtDNA replication factors Twinkle and mtSSB., PMID:30715486
For research use only. Not for human or drug use.
