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DMPK Antibody

  • 货号：
    CSB-PA006968LA01HU
  • 规格：
    ￥440
  • 促销：
    小规格抗体限时一口价
  • 图片：
    • IHC image of CSB-PA006968LA01HU diluted at 1:500 and staining in paraffin-embedded human skeletal muscle tissue performed on a Leica BondTM system. After dewaxing and hydration, antigen retrieval was mediated by high pressure in a citrate buffer (pH 6.0). Section was blocked with 10% normal goat serum 30min at RT. Then primary antibody (1% BSA) was incubated at 4°C overnight. The primary is detected by a biotinylated secondary antibody and visualized using an HRP conjugated SP system.
    • IHC image of CSB-PA006968LA01HU diluted at 1:500 and staining in paraffin-embedded human heart tissue performed on a Leica BondTM system. After dewaxing and hydration, antigen retrieval was mediated by high pressure in a citrate buffer (pH 6.0). Section was blocked with 10% normal goat serum 30min at RT. Then primary antibody (1% BSA) was incubated at 4°C overnight. The primary is detected by a biotinylated secondary antibody and visualized using an HRP conjugated SP system.
    • Immunofluorescence staining of A549 cells with CSB-PA006968LA01HU at 1:166, counter-stained with DAPI. The cells were fixed in 4% formaldehyde, permeabilized using 0.2% Triton X-100 and blocked in 10% normal Goat Serum. The cells were then incubated with the antibody overnight at 4°C. The secondary antibody was Alexa Fluor 488-congugated AffiniPure Goat Anti-Rabbit IgG(H+L).
  • 其他：

产品详情

  • 产品名称：
    Rabbit anti-Homo sapiens (Human) DMPK Polyclonal antibody
  • Uniprot No.：
    Q09013
  • 基因名：
  • 别名：
    DM 1 antibody; DM antibody; DM kinase antibody; DM protein kinase antibody; DM-kinase antibody; DM1 antibody; DM1 protein kinase antibody; DM1PK antibody; DMK antibody; DMPK antibody; DMPK_HUMAN antibody; Dystrophia myotonica 1 antibody; Dystrophia myotonica protein kinase antibody; MDPK antibody; MT PK antibody; MT-PK antibody; Myotonic dystrophy associated protein kinase antibody; Myotonic dystrophy protein kinase antibody; Myotonin protein kinase A antibody; Myotonin protein kinase antibody; Myotonin-protein kinase antibody; Thymopoietin homolog antibody
  • 宿主：
    Rabbit
  • 反应种属：
    Human
  • 免疫原：
    Recombinant Human Myotonin-protein kinase protein (243-424AA)
  • 免疫原种属：
    Homo sapiens (Human)
  • 标记方式：
    Non-conjugated

    本页面中的产品，DMPK Antibody (CSB-PA006968LA01HU)，的标记方式是Non-conjugated。对于DMPK Antibody，我们还提供其他标记。见下表：

    可提供标记
    标记方式 货号 产品名称 应用
    HRP CSB-PA006968LB01HU DMPK Antibody, HRP conjugated ELISA
    FITC CSB-PA006968LC01HU DMPK Antibody, FITC conjugated
    Biotin CSB-PA006968LD01HU DMPK Antibody, Biotin conjugated ELISA
  • 克隆类型：
    Polyclonal
  • 抗体亚型：
    IgG
  • 纯化方式：
    >95%, Protein G purified
  • 浓度：
    It differs from different batches. Please contact us to confirm it.
  • 保存缓冲液：
    Preservative: 0.03% Proclin 300
    Constituents: 50% Glycerol, 0.01M PBS, pH 7.4
  • 产品提供形式：
    Liquid
  • 应用范围：
    ELISA, IHC, IF
  • 推荐稀释比：
    Application Recommended Dilution
    IHC 1:500-1:1000
    IF 1:50-1:200
  • Protocols：
  • 储存条件：
    Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
  • 货期：
    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.

产品评价

靶点详情

  • 功能：
    Non-receptor serine/threonine protein kinase which is necessary for the maintenance of skeletal muscle structure and function. May play a role in myocyte differentiation and survival by regulating the integrity of the nuclear envelope and the expression of muscle-specific genes. May also phosphorylate PPP1R12A and inhibit the myosin phosphatase activity to regulate myosin phosphorylation. Also critical to the modulation of cardiac contractility and to the maintenance of proper cardiac conduction activity probably through the regulation of cellular calcium homeostasis. Phosphorylates PLN, a regulator of calcium pumps and may regulate sarcoplasmic reticulum calcium uptake in myocytes. May also phosphorylate FXYD1/PLM which is able to induce chloride currents. May also play a role in synaptic plasticity.
  • 基因功能参考文献：
    1. The motor function (MRCSS and 6MWT) and CTG repeat length of DMPK significantly correlated with LV diastolic dysfunction in patients with myotonic dystrophy type 1. PMID: 30094526
    2. Variant repeats might explain a part of the phenotypic variability in a small percent of myotonic dystrophy type 1 patients and likely display a stabilizing effect on the meiotic instability of DMPK expanded alleles PMID: 28942489
    3. Haplotype analysis using various polymorphic-markers in proximity to DMPK gene indicates that a single founder mutation originates myotonic dystrophy type 1 in Mexico; however, Y-STR haplogroups data and the presence of pre-mutated and large normal alleles in Amerindians support the hypothesis that both European and Amerindian ancestral chromosomes might have introduced the disease to the Mexican population. PMID: 29054426
    4. Patients with myotonic dystrophy type 1 (DM1) may have a slight decrease in renal function that cannot be explained by a higher occurrence of risk factors for renal failure such as diabetes, hypertension or age. In addition, there was no correlation between CTG repeats, a marker of disease severity, and renal function. PMID: 29029879
    5. Interruptions within the DMPK expanded alleles could also interfere with the chromatin structure, the transcriptional activity of the Myotonic dystrophy type 1 (DM1) locus and the interaction with RNA CUG-binding proteins PMID: 27991661
    6. A second point is that DM mutations, although located in noncoding regions, may reduce the expression of mutant alleles, raising questions whether loss-of-function may contribute to the phenotype, or possibly impose a safety limit on knockdown therapies that create or aggravate a DMPK or CNBP deficiency state PMID: 28376341
    7. (CTG)>18 frequency of 3.60%, 1.57% and 4.00% in the Malay, Chinese and Indian subpopulations of Malaysia were discovered. PMID: 28363916
    8. The patients with DM1 nucleotide expansion (CTG) mutation showed widespread abnormalities of all DTI parameters in the white matter, which were associated with reduced gray matter volume in all brain lobes and thinning in parieto-temporo-occipital cortices. PMID: 27330968
    9. Our work suggests that DM1 patients are at risk for Fuchs' endothelial corneal dystrophy (FECD). DMPK mutations contribute to the genetic burden of FECD but are uncommon. We establish a connection between two repeat expansion disorders converging upon RNA-MBNL1 foci and FECD. PMID: 28886202
    10. findings thus suggest that nuclear retention may be a common feature of regulation of DMPK RNA expression. The typical forced nuclear residence of expanded DMPK transcripts affects this regulation in tissues of DM1 patients, but not through hyperadenylation. PMID: 28435090
    11. Data, including data from studies on synthetic RNA modeling RNA repeat expansions found in patients with Huntington's disease (mRNA for exon 1 of Huntingtin protein) and myotonic dystrophy type 1 (mRNA for 3prime untranslated region of dystrophia myotonica-protein kinase), suggest internal loops of r(3xCAG) are stabilized by one-hydrogen bond AA pairs, while those of r(3xCUG) prefer one- or two-hydrogen bond UU pairs. PMID: 28617590
    12. Analysis of five intergenerational transmissions revealed a substantial intrafamilial stability of the DM1 mutation among relatives. PMID: 27876818
    13. Methylation upstream of the expanded DMPK CTG repeat occurs exclusively with maternal transmission and that it is somehow linked to the development of congenital myotonic dystrophy. PMID: 28257691
    14. Study shows DMPK expression with a complex pattern of tissue-specific epigenetics consistent with evidence that normal tissue require careful regulation of its RNA and protein levels which might include cis-acting regulatory elements in neighboring genes. PMID: 26756355
    15. Sense DMPK RNA foci clearly co-localize with MBNL1 and MBNL2 proteins and accumulate in myotonic dystrophy 1 tissues during development. PMID: 26339785
    16. This study supports the idea that genetic abnormalities in DM1mainly target the white matter, but gray matter involvement is also crucial in determining the clinical characteristics of myotonic dystrophy type 1. PMID: 26214024
    17. that genome modification may be used to generate genetically modified progenitor cells as a first step toward autologous cell transfer therapy for Myotonic dystrophy type 1 PMID: 25702800
    18. miR-206 and miR-148a regulate the DMPK transcript and may functionally cooperate. PMID: 26304544
    19. Three SNP loci (rs915915, rs1799894, and rs10415988) associated with a high chance of myotonic dystrophy in Yakut population. PMID: 26310035
    20. In conclusion, our data suggest that the frequency of DMPK mutation carriers and the prevalence of DM1 in the Korean population might be higher than those reported in other ethnicities. Supporting PMID: 24274137
    21. This study found a correlation between CTG expansion and age of onset, temporalis wasting and mental disability. PMID: 24417793
    22. The results show that a DEAD-box helicase, DDX6, interacts with CUG-expanded DMPK-mRNA in primary fibroblasts from dystrophia myotonica type 1 patients. PMID: 24792155
    23. This study demonstrates the feasibility of carrying out longitudinal in vivo studies of muscle function over several months in a mouse model of myotonic dystrophy confirming the feasibility of this method to test preclinical therapeutics. PMID: 24139022
    24. The mismatch repair components MSH2, MSH3 and MSH6 were highly expressed in iPSCs compared with fibroblasts, and only occupied the DMPK1 gene harboring longer CTG.CAG triplet repeats PMID: 23933738
    25. This work may shed light on the alteration of this class of non-coding RNA as an additional molecular mechanisms involved in DM1 pathophysiology. PMID: 23196502
    26. Together with HK II and Src, mitochondrial DMPK is part of a multimolecular complex endowed with antioxidant and pro-survival properties. PMID: 24136222
    27. DMPK alleles in the samples cover four of five DM1 clinical categories: normal (5 to 34 repeats), mild (50 to 100 repeats), classical (101 to 1000 repeats), and congenital (>1000 repeats PMID: 23680132
    28. The results of this study supported the conclusion that different patterns of CCG interruptions within the CTG array could modulate the DM1 clinical phenotype, variably affecting the mutational dynamics of the variant repeat. PMID: 23263591
    29. These data demonstrate that the human DM1 locus carrying very large expansions induced a variety of molecular and physiological defects in transgenic mice, reflecting DM1 to a certain extent. PMID: 23209425
    30. In the DMPK/SIX5 locus, the presence of two potential replication origins presents an opportunity to screen for trans-acting second-site genes and therapeutic agents affecting chromatin structure, DNA replication, and trinucleotide repeats stability PMID: 22354993
    31. reduced DMPK may contribute to NE instability, a common mechanism of skeletal muscle wasting in muscular dystrophies. PMID: 21949239
    32. The results of this study suggested that peripheral neuropathy can be linked to a large CTG expansion and a severe form of DM1. PMID: 21760538
    33. analysis of CTG repeats at the DMPK gene in myotonic dystrophy patients and healthy individuals from the Mexican population PMID: 20635151
    34. NMR spectroscopy and molecular dynamics simulation show that the 5'CUG/3'GUC motif found in DM1 RNAs is dynamic. PMID: 21204525
    35. Only seven typical patients with myotonic dystrophy from six unrelated families were identified, all with large pathological CTG repeat expansions (> 400 repeats) in the DMPK gene PMID: 20801043
    36. Methylation of the CpG sites in DMPK locus does not correlate with CTG expansion size or with the congenital form of the disease. The size range of the repeat expansions with methylation was from as small as 300 to as large as 2800 repeats. PMID: 20644219
    37. An aberrant MTMR1 expression and signs of altered myofiber maturation were documented in DM1. There was more severe dysregulation of MTMR1 expression in DM1. PMID: 20685272
    38. This study showedthat an abnormal activation of the proteolytic Fbox32/ubiquitin-proteasome pathway may contribute to muscle atrophy in these mice and could be involved in the progressive muscle loss observed in the myotonic dystrophy type 1 patients. PMID: 20346670
    39. Steinert's disease caused by a dynamic mutation of (CTG) trinucleotide repeats in the 3' untranslated region of the myotonic dystrophy protein kinase gene (DMPK). PMID: 20228473
    40. a tail-anchored myotonic dystrophy protein kinase isoform induces perinuclear clustering of mitochondria, autophagy, and apoptosis PMID: 19946639
    41. eight years' experience of direct molecular testing for myotonic dystrophy in Wales PMID: 11748308
    42. Gene for myotonic dystrophy PMID: 11766468
    43. presymptomatic testing in myotonic dystrophy: genetic counselling approaches PMID: 11768386
    44. trinucleotide repeat contraction of a paternal expanded DMPK allele back to the normal range detected in the fetus: a pitfall in prenatal diagnosis of myotonic dystrophy PMID: 11768387
    45. negative linear correlation of age at onset and average expansion size in juvenile-adult DM1 patients (35 out of 46) whose progenitor allele is less than 245 repeats long PMID: 11793472
    46. conclude that mutant DMPK 3'-UTR transcripts disrupt myoblast differentiation by reducing MyoD levels below a threshold required to activate the differentiation program PMID: 12427866
    47. Levels of this enzyme are altered, along with muscle development, in congenital myotonic dystrophy. PMID: 12598332
    48. These studies indicate that homologous recombination strongly destabilizes long tracts of CTG repeats from DMPK PMID: 12697816
    49. enhancement of activity through homodimerization of coiled-coil regions PMID: 12832055
    50. the N-terminus of DMPK plays an important role in DMPK kinase activity, and that the C-terminus of DMPK determines the intracellular localization of the protein PMID: 14607980

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  • 相关疾病：
    Dystrophia myotonica 1 (DM1)
  • 亚细胞定位：
    Endoplasmic reticulum membrane; Single-pass type IV membrane protein; Cytoplasmic side. Nucleus outer membrane; Single-pass type IV membrane protein; Cytoplasmic side. Mitochondrion outer membrane; Single-pass type IV membrane protein. Sarcoplasmic reticulum membrane. Cell membrane. Cytoplasm, cytosol.; [Isoform 1]: Mitochondrion membrane.; [Isoform 3]: Mitochondrion membrane.
  • 蛋白家族：
    Protein kinase superfamily, AGC Ser/Thr protein kinase family, DMPK subfamily
  • 组织特异性：
    Most isoforms are expressed in many tissues including heart, skeletal muscle, liver and brain, except for isoform 2 which is only found in the heart and skeletal muscle, and isoform 14 which is only found in the brain, with high levels in the striatum, ce
  • 数据库链接：

    HGNC: 2933

    OMIM: 160900

    KEGG: hsa:1760

    STRING: 9606.ENSP00000345997

    UniGene: Hs.631596