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  4. Recombinant Human DNA polymerase subunit gamma-1 (POLG), partial

Recombinant Human DNA polymerase subunit gamma-1 (POLG), partial

  • 中文名稱：
    人POLG重組蛋白
  • 貨號：
    CSB-YP018313HU
  • 規(guī)格：
  • 來源：
    Yeast
  • 其他：
  • 中文名稱：
    人POLG重組蛋白
  • 貨號：
    CSB-EP018313HU
  • 規(guī)格：
  • 來源：
    E.coli
  • 其他：
  • 中文名稱：
    人POLG重組蛋白
  • 貨號：
    CSB-EP018313HU-B
  • 規(guī)格：
  • 來源：
    E.coli
  • 共軛：
    Avi-tag Biotinylated

    E. coli biotin ligase (BirA) is highly specific in covalently attaching biotin to the 15 amino acid AviTag peptide. This recombinant protein was biotinylated in vivo by AviTag-BirA technology, which method is BriA catalyzes amide linkage between the biotin and the specific lysine of the AviTag.

  • 其他：
  • 中文名稱：
    人POLG重組蛋白
  • 貨號：
    CSB-BP018313HU
  • 規(guī)格：
  • 來源：
    Baculovirus
  • 其他：
  • 中文名稱：
    人POLG重組蛋白
  • 貨號：
    CSB-MP018313HU
  • 規(guī)格：
  • 來源：
    Mammalian cell
  • 其他：

產(chǎn)品詳情

  • 純度：
    >85% (SDS-PAGE)
  • 基因名：
    POLG
  • Uniprot No.：
  • 別名：
    DNA directed DNA polymerase gamma; DNA polymerase subunit gamma 1; DNA polymerase subunit gamma-1; DPOG1_HUMAN; MDP 1; MDP1; Mitochondrial DNA polymerase catalytic subunit; Mitochondrial DNA polymerase gamma; PEO; POLG 1; POLG A; PolG alpha; POLG; PolG-alpha; POLG1; POLGA; Polymerase (DNA directed) gamma; SANDO; SCAE
  • 種屬：
    Homo sapiens (Human)
  • 蛋白長度：
    Partial
  • 蛋白標簽：
    Tag?type?will?be?determined?during?the?manufacturing?process.
    The tag type will be determined during production process. If you have specified tag type, please tell us and we will develop the specified tag preferentially.
  • 產(chǎn)品提供形式：
    Lyophilized powder
    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.
  • 復(fù)溶：
    We recommend that this vial be briefly centrifuged prior to opening to bring the contents to the bottom. Please reconstitute protein in deionized sterile water to a concentration of 0.1-1.0 mg/mL.We recommend to add 5-50% of glycerol (final concentration) and aliquot for long-term storage at -20℃/-80℃. Our default final concentration of glycerol is 50%. Customers could use it as reference.
  • 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(zhì)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：
    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 ：
    Please contact us to get it.

產(chǎn)品評價

靶點詳情

  • 功能：
    Involved in the replication of mitochondrial DNA. Associates with mitochondrial DNA.
  • 基因功能參考文獻：
    1. The POLG1 mutations may either cause mtDNA depletion or multiple mtDNA deletions. PMID: 28905223
    2. ). Based on the current genetic data, both RECQL p.I156M and POLG p.L392V represent novel breast cancer predisposing alleles. PMID: 29341116
    3. POLG missense variants cause neuromyopathy with congenital cataracts and glaucoma. PMID: 29358615
    4. The POLG1 CAG repeat length variation and the GBA p.L444P variant are associated with Parkinson's disease in the Finnish population PMID: 29029963
    5. Two tag SNPs of TFAM and POLG were associated with multibacillary leprosy in Han Chinese from Southwest China. PMID: 28958595
    6. POLG phenotypes and natural history of early-onset POLG-related disorders in a large multinational pediatric cohort PMID: 28471437
    7. Together with mitochondrial dysfunction in bipolar disorder, the present results suggested deleterious POLG1 variants as a credible risk for the multifactorial disease. PMID: 27987238
    8. This study suggests that, at variance with mouse and un/de-differentiated human cells, differentiated human cells control mtDNA levels irrespective of POLG methylation. PMID: 28069933
    9. One patient presented with Leigh syndrome and had a homozygous deletion in the NDUFAF2 gene, while the second patient had a homozygous mutation in the POLG gene, [c.1399G>A; p.Ala467Thr]. PMID: 27344355
    10. The p.Y955C and p.Y955H mutations cause related, but distinct molecular phenotypes. POLgammaA:Y955H is unable to synthesize DNA, POLgammaA:Y955C has strongly impaired DNA synthesis activity.POLgammaA:Y955C has a stronger affinity for primed DNA templates. the molecular differences are subtle, they do lead to fundamentally different clinical presentations. PMID: 28430993
    11. The rs758130 in POLG gene was significantly associated with the prognosis of patients in a dose-dependent manner. Moreover, GG genotype in rs1061316 showed significantly high mtDNA content, an indicator of better prognosis. PMID: 28457473
    12. Pol G composes the mtDNA replication machinery, this replication machinery and failure to repair these mtDNA errors results in mtDNA mutations and as a result mitochondrial dysfunction - a major driving force behind aging and age-related diseases. PMID: 27143693
    13. POLG mutations are associated with progressive external ophthalmoplegia. PMID: 28154168
    14. tudies on the impact of mitochondrial DNA variants present conflicting data but highlight POLG as a particularly interesting candidate gene for both male and female infertility. PMID: 27748512
    15. This review presented that the patient with epilepsy due to homozygous pathogenic variants located in the linker region of POLG were associated with later age of onset and longer survival compared to compound heterozygous variants. PMID: 27554452
    16. MGME1 processes flaps into ligatable nicks in concert with DNA polymerase gamma during mtDNA replication. PMID: 27220468
    17. Study further demonstrated the broad POLG-related spectrum and led to the identification of Sensory Ataxic Neuropathy with Ophthalmoparesis but without dysarthria (SANO), a new yet common phenotype of this spectrum characterized by the lack of cerebellar signs and by a less severe prognosis than in Sensory Ataxic Neuropathy, Dysarthria and Ophthalmoparesis (SANDO) and Spino Cerebellar Ataxia with Epilepsy (SCAE) PMID: 27538604
    18. molecular dynamics simulations of the human Pol gamma replicative complex PMID: 28206745
    19. Overall, POLG interactome mapping identifies novel proteins which support mitochondrial biogenesis and a potential novel mitochondrial isoform of Ruvbl2. PMID: 27845271
    20. lymphocytes with POLG mutations are more sensitive than control cells to oxidative stress-induced apoptosis. PMID: 27538665
    21. study increases the range of clinical presentations associated with mutations in POLG gene, underlining some peculiar clinical features, such as progressive external ophtalmoplegia associated with corneal edema, and epilepsy, severe neuropathy with achalasia PMID: 28130605
    22. Demonstrated no apparent association between POLG-CAG-repeats and male infertility. Similarly, CAG-repeat was not a sensitive site to male infertility. Meta-analysis. PMID: 26790834
    23. This study describe the epilepsy syndrome in seven patients with POLG mutations. PMID: 26104464
    24. CAG repeat polymorphism in the mitochondrial DNA polymerase gamma gene (POLG) does not appear to be associated with colorectal cancer PMID: 26317126
    25. The variable and overlapping clinical and neuropathological phenotypes and downstream molecular defects caused by the A467T mutation. PMID: 26735972
    26. altered genetic and epigenetic regulation of POLG1 in human cancers and suggest a role for POLG1 germline variants in promoting tumorigenic properties. PMID: 26468652
    27. Herein we report a patient with a POLG gene W748S homozygous mutation and characteristic lesions in the thalamus, cerebellum and inferior olivary nucleus seen on magnetic resonance imaging. PMID: 26755490
    28. POLG's 3'-5' exonuclease proofreading activity is required for the creation of ligatable ends during mtDNA replication. PMID: 26095671
    29. The stimulatory effect of mtSSB on Pol gamma on these ssDNA templates is not species-specific. PMID: 26446790
    30. Computational analysis of the PolG protein suggests that the p.K601E mutation is likely the most significant contributing factor to a pathogenic phenotype in an adult mitochondrial ataxia. PMID: 25488682
    31. Data suggest that methylation of mitochondrial DNA in exon 2 of POLGA is instrumental in regulation of DNA replication in pluripotent stem cells, in embryonic development, and in tumorigenesis. [REVIEW] PMID: 26335356
    32. Family case study and literature review of the complexity of genotype-phenotype correlations of POLG1 gene PMID: 25660390
    33. mutations associated with acute valproate-induced liver failure PMID: 25065347
    34. Multiple deletions of mitochondrial DNA were detected along with a novel mutation in POLG1 in patients with Parkinsonism, cognitive deficit and behavioral disturbance. PMID: 25724872
    35. The results of this study provided evidence for a significantly lower of mtDNA copy number in PD patients and POLG1 variation for reducing mtDNA copy number in Parkinson dseases. PMID: 25585994
    36. case report of an unusual encephalopathy caused by POLG mutation PMID: 25210026
    37. Familial analysis indicated causal relationship of POLG variants with mitochondrial disease, consistent with autosomal recessive inheritance. PMID: 26077851
    38. Crystal structure of POLG1 in complex with mitochondrial DNA PMID: 26056153
    39. Phenotypes associated with POLG mutations follow a reproducible pattern, which allows establishing a diagnostic flow chart PMID: 25118206
    40. A POLG gene mutation was identified in a case of hypertrophic olivary degeneration. PMID: 25713120
    41. systemic mutational analysis in both sisters revealed a heterozygous p.Y955C (c.2864A>G) mutation in POLG1 PMID: 24943079
    42. These data provide no evidence to suggest CAG repeat length in POLG1 affects Parkinson's disease susceptibility. PMID: 24491464
    43. Mitochondrial DNA (mtDNA) content plays an important role in energy production and sustaining normal physiological function. PMID: 24524965
    44. We confirm that large deletions in the POLG gene are rare events, we highlight the importance of quantitative multiplex PCR of short fluorescent fragments in patients with a single heterozygous POLG mutation, particularly in severe infantile phenotypes. PMID: 23921535
    45. study established genotype-phenotype correlations for complete spectrum of POLG syndromes by refining mapping of pathogenic mutations in the POLG gene to functional clusters in the catalytic core of the mitochondrial replicase, Pol gamma PMID: 24508722
    46. POLG mutations appear to compromise neuronal respiration via a combination of early and stable depletion and a progressive somatic mutagenesis of the mitochondrial genome. PMID: 24841123
    47. Our findings provide two lines of evidence suggesting a role for POLG1 mutations in Parkinson's disease PMID: 24122062
    48. The present study confirmed no association between the POLG gene polymorphism and male infertility. PMID: 23912752
    49. content, and depolarized mitochondrial membranes. The severity of the Pol-gamma mutant phenotype in heterozygous diploid humanized yeast correlates with the approximate age of disease onset and the severity of symptoms observed in humans. PMID: 24398692
    50. findings suggest that monogenic POLG mutations are not a common pathogenic determinant of severe stavudine-associated mitochondrial toxicity in Malawians PMID: 23962909

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  • 相關(guān)疾病：
    Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 1 (PEOA1); Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive, 1 (PEOB1); Sensory ataxic neuropathy dysarthria and ophthalmoparesis (SANDO); Mitochondrial DNA depletion syndrome 4A (MTDPS4A); Mitochondrial DNA depletion syndrome 4B (MTDPS4B); Leigh syndrome (LS); Spinocerebellar ataxia with epilepsy (SCAE)
  • 亞細胞定位：
    Mitochondrion. Mitochondrion matrix, mitochondrion nucleoid.
  • 蛋白家族：
    DNA polymerase type-A family
  • 數(shù)據(jù)庫鏈接：

    HGNC: 9179

    OMIM: 157640

    KEGG: hsa:5428

    STRING: 9606.ENSP00000268124

    UniGene: Hs.706868



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