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THAP1 Antibody

  • 中文名稱:
    THAP1兔多克隆抗體
  • 貨號(hào):
    CSB-PA023474GA01HU
  • 規(guī)格:
    ¥3,900
  • 其他:

產(chǎn)品詳情

  • Uniprot No.:
  • 基因名:
    THAP1
  • 別名:
    4833431A01Rik antibody; DYT6 antibody; FLJ10477 antibody; MGC33014 antibody; Nuclear proapoptotic factor antibody; THAP 1 antibody; THAP domain containing 1 antibody; THAP domain containing apoptosis associated protein 1 antibody; THAP domain containing protein 1 antibody; THAP domain protein 1 antibody; THAP domain-containing protein 1 antibody; Thap1 antibody; THAP1_HUMAN antibody
  • 宿主:
    Rabbit
  • 反應(yīng)種屬:
    Human,Mouse,Rat
  • 免疫原:
    Human THAP1
  • 免疫原種屬:
    Homo sapiens (Human)
  • 抗體亞型:
    IgG
  • 純化方式:
    Antigen Affinity Purified
  • 濃度:
    It differs from different batches. Please contact us to confirm it.
  • 保存緩沖液:
    PBS with 0.1% Sodium Azide, 50% Glycerol, pH 7.3. -20°C, Avoid freeze / thaw cycles.
  • 產(chǎn)品提供形式:
    Liquid
  • 應(yīng)用范圍:
    ELISA,WB,IHC
  • Protocols:
  • 儲(chǔ)存條件:
    Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
  • 貨期:
    Basically, we can dispatch the products out in 1-3 working days after receiving your orders. Delivery time maybe differs from different purchasing way or location, please kindly consult your local distributors for specific delivery time.
  • 用途:
    For Research Use Only. Not for use in diagnostic or therapeutic procedures.

產(chǎn)品評(píng)價(jià)

靶點(diǎn)詳情

  • 功能:
    DNA-binding transcription regulator that regulates endothelial cell proliferation and G1/S cell-cycle progression. Specifically binds the 5'-[AT]NTNN[GT]GGCA[AGT]-3' core DNA sequence and acts by modulating expression of pRB-E2F cell-cycle target genes, including RRM1. Component of a THAP1/THAP3-HCFC1-OGT complex that is required for the regulation of the transcriptional activity of RRM1. May also have pro-apoptotic activity by potentiating both serum-withdrawal and TNF-induced apoptosis.
  • 基因功能參考文獻(xiàn):
    1. Dysfunction in similar pathways occurring with mutations in THAP1 as well as diverse dystonia genes highlight a point of convergence in the pathophysiology of several forms of inherited dystonia. PMID: 29364887
    2. The region of amino acids 139-185 is involved in formation of THAP1 homodimers. PMID: 28299530
    3. We functionally characterized for the first time three dystonia-causing missense variants (p.N136K, p.N136S and p.Y137C) within the HBM in the C-terminal region of THAP1. Dystonia-causing mutations affecting the residues N136 and Y137 in THAP1 significantly reduced HCFC1 recruitment to all four tested promoter regions. PMID: 28486698
    4. that the THAP1 is likely to have a causative role in the pathogenesis of Indian primary pure dystonia patients PMID: 27913194
    5. This study demonstrated that whole-exome sequencing show reveled THAP1 mutation with early-onset generalized dystonia. PMID: 27666935
    6. Genetic screening targeted at currently known disease-causing mutations in TOR1A, THAP1, and TUBB4 appears to have low diagnostic yield in sporadic spasmodic dysphonia. In our cohort, only 2 patients tested positive for novel/rare variants in THAP1. PMID: 27188707
    7. A deleterious THAP1 mutation was identified in patients with idiopathic isolated dystonia. PMID: 26940431
    8. there might not be an association between TOR1A or THAP1 and patients with adult-onset primary focal dystonia PMID: 26803725
    9. findings strongly suggest the role of other genetic factors or environmental triggers in the pathogenesis of dystonia related to mutations in THAP1 gene. PMID: 25385508
    10. The aim of this study was to assess the presence of DYT6 mutations in Polish patients with isolated dystonia. It shows known and novel substitutions. PMID: 26087139
    11. THAP1 variants are an important cause of dystonia among individuals with an early-onset disease and a positive family history. PMID: 24976531
    12. This study demonistrated that Combined occurrence of a novel TOR1A and a THAP1 mutation in primary dystonia. PMID: 24862462
    13. this study identified a feedback-loop in the regulation of THAP1 expression and demonstrated that mutant THAP1 leads to higher THAP1 expression levels. PMID: 25088175
    14. Primary dystonia in the Amish-Mennonites is genetically diverse and includes not only the THAP1 indel founder mutation but also different mutations in THAP1 and GNAL as well as the TOR1A GAG deletion. PMID: 24500857
    15. This study suggest that the clinical disease course in dystonia patients with mutation of THAP1 in Japanese' PMID: 24227593
    16. Our results indicate that certain mutations in the THAP1 gene may lead to primary dystonia with remarkable intrafamilial clinical variability. PMID: 25168324
    17. deletion of SLC20A2 and THAP1 may have a role in familial basal ganglia calcification with dystonia [case report and family study] PMID: 24135862
    18. Current known dystonia genes include those related to dopamine metabolism, transcription factor, cytoskeleton, transport of glucose and sodium ion, etc. PMID: 23782819
    19. Par-4/THAP1 complex and Notch3 competitively regulated pre-mRNA splicing of CCAR1 and affected inversely the survival of T-cell acute lymphoblastic leukemia cells. PMID: 23975424
    20. The genotypic spectrum of THAP1 and strengthen the association with upper body involvement, including the cranial and cervical regions that are usually spared in DYT1-primary dystonia. PMID: 23180184
    21. Our findings indicate that THAP1 mutations are very rare in blepharospasm PMID: 23036512
    22. Truncated THAP1 mutations (F22fs71X and F25fs53X) can alter subcellular distributions in DYT6 dystonia, while some missense mutations (C54F and L180S) cannot. PMID: 22652465
    23. in dystonia DYT1 and DYT6 gene mutation carriers, diffusion tensor imaging detected fewer fibers in the cerebello-thalamo-cortical pathways PMID: 22987473
    24. This study supported that THAP1 mutations are an important cause of dystonia. PMID: 22903657
    25. this study demonstrated marked intrafamilial variations of dystonia in a single Japanese family with DYT6 and limited efficiency of deep brain stimulation. PMID: 22821615
    26. Evaluation of the effect of missense mutations, within the THAP domain, on the structure, stability and DNA binding. PMID: 22844099
    27. The role of THAP1 as a major genetic modifier in DYT1 dystonia and suggest the presence of other genetic or environmental factors that may influence the manifestation of DYT1 dystonia. PMID: 22508326
    28. THAP domain of THAP1 tend to manifest at an earlier age and exhibit more extensive anatomical distributions than mutations localized to other regions of THAP1. PMID: 22377579
    29. THAP1 mutations do not seem to play a major role in primary focal/segmental dystonia in this sample of southern German origin. PMID: 21782490
    30. Mutation frequency of the THAP1 gene is 0.87% in Chinese patients with primary pure dystonia, similar to the mutation frequency found in other ethnic groups. PMID: 21839475
    31. the THAP1 gene to colligate all reported patients with a specific THAP1 mutation and the associated clinical signs in order to describe the broad phenotypic continuum of DYT6 dystonia ( THAP1 ) PMID: 21793105
    32. One silent mutation (c.267G>A) was shown to affect THAP1 expression. PMID: 21800139
    33. THAP1 mutations are rare in unselected dystonia patients and functional analysis is necessary to distinguish between benign variants and pathogenic mutations. PMID: 21847143
    34. This study demonistrated that THAP1 mutations are infrequent in spasmodic dysphonia in Dutch patient. PMID: 21538522
    35. This study demonistrated that Truncating mutations in THAP1 define the nuclear localization signal. PMID: 21495072
    36. The results of this study suggested that No evidence for THAP1/DYT6 variants as disease modifiers in DYT1 dystonia. PMID: 21638323
    37. Genetic analysis of the entire genomic region of THAP1 revealed a novel variant that was specific for African-Americans PMID: 21601506
    38. this study presented that the DYT6 phenotypes in association with new THAP1 frameshift mutations. PMID: 21520283
    39. These observations offer additional insight into the role of the coiled-coil domain in THAP1, which may facilitate future analyses of DYT6 mutations in this region PMID: 21752024
    40. The data of this study suggested that homozygous THAP1 mutations cause dystonia and may be associated with a less severe dysfunction of the encoded protein compared with heterozygous disease-causing mutations. PMID: 21425335
    41. This study indicated that the c.-237_236GA>TT THAP1 sequence variant does not increase risk for adult-onset primary dystonia in Caucasians. PMID: 21370264
    42. Three subjects were found to have the GAG deletion in the TOR1A gene, and two patients were detected with THAP1 gene mutations/variations PMID: 20825472
    43. found five heterozygous mutations in THAP1 in autosomal dominant primary torsion dystonia 6 PMID: 21110056
    44. Mutations in these two known primary torsion dystonia (PTD) genes, TOR1A and THAP1, are responsible for about 10% of the PTD cases in our Brazilian cohort suggesting genetic heterogeneity and supporting the role of other genes in PTD. PMID: 20925076
    45. The variant of THAP1( c.71+9C>A) in intron 19 was found in 3 late onset dystonia patients (0.6%) and one control subject (0.5%). PMID: 20687191
    46. These findings suggest that THAP1 sequence variations in primary dystonia seem to be associated with different ages of onset and distribution of symptoms PMID: 20669277
    47. This study demonstrated a physical interaction between THAP1 and the TOR1A promoter that is abolished by pathophysiologic mutations. PMID: 20865765
    48. The THAP zinc finger uses its double-stranded beta-sheet to fill the DNA major groove and provides a unique combination of contacts from the beta-sheet, the N-terminal tail and surrounding loops toward the five invariant base pairs of the THABS sequence PMID: 20144952
    49. THAP1 mediates the recruitment of HCF-1 to the RRM1 promoter during endothelial cell proliferation and that HCF-1 is essential for transcriptional activation of RRM1. PMID: 20200153
    50. These data suggest that early-onset dystonia that includes the involvement of the larynx or face is frequently associated with THAP1 mutations. PMID: 20211909

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  • 相關(guān)疾病:
    Dystonia 6, torsion (DYT6)
  • 亞細(xì)胞定位:
    Nucleus, nucleoplasm. Nucleus, PML body.
  • 蛋白家族:
    THAP1 family
  • 組織特異性:
    Highly expressed in heart, skeletal muscle, kidney and liver. Weaker expression in brain and placenta.
  • 數(shù)據(jù)庫鏈接:

    HGNC: 20856

    OMIM: 602629

    KEGG: hsa:55145

    STRING: 9606.ENSP00000254250

    UniGene: Hs.7432



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