在线日韩日本国产亚洲丨少妇伦子伦情品无吗丨欧美性猛交xxxx免费看蜜桃丨精品人妻系列无码一区二区三区丨亚洲精品无码不卡在线播放

Your Good Partner in Biology Research

MPV17 Antibody

  • 中文名稱:
    MPV17兔多克隆抗體
  • 貨號:
    CSB-PA014771GA01HU
  • 規格:
    ¥3,900
  • 其他:

產品詳情

  • Uniprot No.:
  • 基因名:
    MPV17
  • 別名:
    Glomerulosclerosis antibody; Mpv17 antibody; Mpv17 human homolog of glomerulosclerosis and nephrotic syndrome antibody; MpV17 mitochondrial inner membrane protein antibody; MPV17_HUMAN antibody; MTDPS6 antibody; Protein Mpv17 antibody; SYM1 antibody
  • 宿主:
    Rabbit
  • 反應種屬:
    Human,Mouse,Rat
  • 免疫原:
    Human MPV17
  • 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 0.02% Sodium Azide, 50% Glycerol, pH 7.3. -20°C, Avoid freeze / thaw cycles.
  • 產品提供形式:
    Liquid
  • 應用范圍:
    ELISA,WB,IHC
  • Protocols:
  • 儲存條件:
    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.

產品評價

靶點詳情

  • 功能:
    Non-selective channel that modulates the membrane potential under normal conditions and oxidative stress, and is involved in mitochondrial homeostasis. Involved in mitochondrial deoxynucleoside triphosphates (dNTP) pool homeostasis and mitochondrial DNA (mtDNA) maintenance. May be involved in the regulation of reactive oxygen species metabolism and the control of oxidative phosphorylation.
  • 基因功能參考文獻:
    1. The authors describe an 11 year old girl, born to consanguineous parents, who presented with rapidly progressive MPV17 hepatocerebral mitochondrial DNA depletion syndrome. Genetic analysis of the patient revealed a homozygous pathogenic mutation c.121C>T (p.R41W) in the MPV17 gene. PMID: 28673863
    2. New case of Navajo Neurohepatopathy presented + literature review is provided to assist in diagnosis and management of the disease. PMID: 28209105
    3. We report a novel homozygous mutation in MPV17 from two unrelated patients harboring axonal sensorimotor polyneuropathy without hepatoencephalopathy. PMID: 26437932
    4. MPV17 is a Deltapsim-modulating channel that apparently contributes to mitochondrial homeostasis under different conditions PMID: 25861990
    5. 12 pathogenic mutations in mitochondrial DNA depletion syndrome in the MPV17 gene, of which 11 are novel, in 17 patients from 12 families. PMID: 23714749
    6. A novel c.191C>G (p.Pro64Arg) MPV17 mutation has been identified in two pairs of unrelated Polish siblings with mitochondrial hepatoencephalopathy. PMID: 23829229
    7. Case Report: functional splicing assay based on the use of minigenes to support that MPV17 c.70 + 5G > A mutation is disease causing. PMID: 20614188
    8. results suggest that M-LPH functions to protect cells from oxidative stress and/or initiation of the mitochondrial apoptotic cascade under stressed conditions PMID: 22306510
    9. eight new patients with seven novel mutations in MPV17 PMID: 20074988
    10. MPV17 is a mitochondrial inner membrane protein, and its absence or malfunction causes oxidative phosphorylation (OXPHOS) failure and mtDNA depletion, not only in affected individuals but also in Mpv17-/- mice PMID: 16582910
    11. These results show the existence of the human homolog of M-LP and its participation in reactive oxygen species metabolism. PMID: 16631601
    12. Sequencing of the MPV17 gene in six patients with Navajo neurohepatopathy from five families revealed the homozygous R50Q mutation described elsewhere. PMID: 16909392
    13. Mutations in the MPV17 gene should be considered in the course of evaluating the molecular etiology for isolated, rapidly progressive infantile hepatic failure. PMID: 17694548
    14. Lack of founder effect for an identical mtDNA depletion syndrome (MDS)-associated MPV17 mutation shared by Navajos and Italians. PMID: 18261905
    15. Lethal hepatopathy, polyneuropathy, neurological regression and leukodystrophy are associated with mutations in MPV17. PMID: 18329934
    16. study describes clinical, molecular morphological & biochemical features of 3 children with hepatocerebral mitochondrial DNA depletion syndrome secondary to novel MPV17 mutations; data confirm MPV17 mutations are associated with a 2-stage syndrome PMID: 18695062
    17. describes in detail the specific clinical and biological characteristics of three patients with MPV17 gene mutations, a rare hepatocerebral mitochondrial DNA depletion syndrome (MDS) PMID: 19012992
    18. clinical courses of patients with MPV17 mutations are greatly influenced by viral infections & dietary & pharmaceutical treatments targeting mitochondrial respiratory chain complex II may be beneficial in the clinical management of MPV17 mutant patients. PMID: 19520594

    顯示更多

    收起更多

  • 相關疾病:
    Mitochondrial DNA depletion syndrome 6 (MTDPS6)
  • 亞細胞定位:
    Mitochondrion inner membrane; Multi-pass membrane protein.
  • 蛋白家族:
    Peroxisomal membrane protein PXMP2/4 family
  • 組織特異性:
    Ubiquitous. Expressed in pancreas, kidney, muscle, liver, lung, placenta, brain and heart.
  • 數據庫鏈接:

    HGNC: 7224

    OMIM: 137960

    KEGG: hsa:4358

    STRING: 9606.ENSP00000233545

    UniGene: Hs.75659



主站蜘蛛池模板: 国内精品美女视频免费直播 | 国产成人av国语在线观看| 国产女人高潮叫床免费视频| 欧美日韩精品一区二区性色a+v| 国产在线观看无码不卡| 国产在线不卡精品网站| 欧美人与性囗牲恔配| 国产乱国产乱老熟300部视频| 色悠久久久久综合网香蕉| 亚在线第一国产州精品99| 精品亚洲国产成人av不卡| 美女视频黄频a美女大全| 久久一日本道色综合久久| 亚洲不卡av不卡一区二区| 黑人巨大videos精品| 好爽好舒服要高潮了视频| 无码人妻一区二区三区在线| 色婷婷综合久久久久中文字幕 | 国产乱人伦偷精精品视频| 99久久精品无码一区二区三区| 高大丰满熟妇丰满的大白屁股| 精品麻豆丝袜高跟鞋av| 最新亚洲伦理中文字幕| 亚洲人成黄网站69影院| 嫩草av久久伊人妇女超级a| 国产精品爱久久久久久久| 亚洲人成网站在线播放小说| 无码少妇高潮浪潮av久久| 无码毛片一区二区本码视频| 精品国产偷窥一区二区| 无码人妻品一区二区三区精99 | 色婷婷亚洲一区二区三区| 国色天香成人网| 久久99亚洲含羞草影院| 久久精品中文字幕有码| 中文字幕美人妻亅u乚一596| www.-级毛片线天内射视视| 国内精品久久久久影院免费| 国产精品女丝袜白丝袜| 国产人妻一区二区三区久| 欧美日韩无套内射另类|