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

Recombinant Human Transmembrane protein 70, mitochondrial (TMEM70)

  • 中文名稱:
    人TMEM70重組蛋白
  • 貨號:
    CSB-CF883602HU
  • 規格:
  • 來源:
    in vitro E.coli expression system
  • 其他:

產品詳情

  • 基因名:
    TMEM70
  • Uniprot No.:
  • 別名:
    TMEM70; Transmembrane protein 70, mitochondrial
  • 種屬:
    Homo sapiens (Human)
  • 蛋白長度:
    Full Length of Mature Protein
  • 表達區域:
    82-260
  • 氨基酸序列
    LNTPSDKSEDGRLIYTGNMARAVFGVKCFSYSTSLIGLTFLPYIFTQNNAISESVPLPIQ IIFYGIMGSFTVITPVLLHFITKGYVIRLYHEATTDTYKAITYNAMLAETSTVFHQNDVK IPDAKHVFTTFYAKTKSLLVNPVLFPNREDYIHLMGYDKEEFILYMEETSEEKRHKDDK
    Note: The complete sequence may include tag sequence, target protein sequence, linker sequence and extra sequence that is translated with the protein sequence for the purpose(s) of secretion, stability, solubility, etc.
    If the exact amino acid sequence of this recombinant protein is critical to your application, please explicitly request the full and complete sequence of this protein before ordering.
  • 蛋白標簽:
    N-terminal 10xHis-tagged
  • 產品提供形式:
    Liquid or 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.
  • 緩沖液:
    Lyophilized from Tris/PBS-based buffer, 6% Trehalose, pH 8.0
  • 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:
    Basically, we can dispatch the products out in 1-3 working days after receiving your orders. 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 & COA:
    Please contact us to get it.

產品評價

靶點詳情

  • 功能:
    Involved in biogenesis of mitochondrial ATP synthase.
  • 基因功能參考文獻:
    1. Chinese family with dual LQT1 and HCM phenotypes associated with tetrad heterozygous mutations in KCNQ1, MYH7, MYLK2, and TMEM70 mutations. PMID: 25825456
    2. In summary, TMEM70 mutations can cause distinct ultrastructural mitochondrial degeneration and almost complete deficiency of ATP synthase but are still amenable to treatment. PMID: 26550569
    3. TMEM70 deficiency is a panethnic, multisystemic disease with variable outcome depending mainly on adequate management of hyperammonaemic crises in the neonatal period and early childhood. PMID: 25326274
    4. Pulmonary hypertension has rarely been reported in mitochondrial disorders and, so far, it has been described in association with TMEM70 deficiency only in one patient PMID: 24485043
    5. These data indicate that the biological function of TMEM70 in the ATP synthase biogenesis may be mediated through interaction with other protein(s). PMID: 24576557
    6. this study suggests that mutant TMEM70 associates in high molecular weight complexes (470-550 kDa) when expressed in Hela cells and exerts a direct action in ATP synthase biogenesis and assembly, mediating the incorporation of F1 moieties. PMID: 22986587
    7. Fibroblasts from 10 patients with TMEM70 317-2A>G homozygous mutation showed a significant 82-89% decrease of ATP synthase and 50-162% increase of respiratory chain complex IV and 22-53% increase of complex III. PMID: 22433607
    8. The authors report a fragmented mitochondrial network and swollen and irregularly shaped mitochondria with partial to complete loss of the cristae in fibroblasts of a patient with a novel TMEM70 gene deletion. PMID: 21945727
    9. TMEM70 mutations are involved in the pathogenesis of 3-methylglutaconic acid (3-MGA) acydoses in populations of different ethnic origin and become a useful genetic marker for this disease. PMID: 21815885
    10. The study identifies TMEM70 gene defect as a pan-ethnic disorder and further redefines it as the most common cause of nuclear-origin ATP synthase deficiency. PMID: 21147908
    11. Complex V TMEM70 deficiency results in mitochondrial nucleoid disorganization. PMID: 20920610
    12. No TMEM70 protein could be found in cells and isolated mitochondria from patients with ATP synthase deficiency due to TMEM70 c.317-single nucleotide polymorphism mutation. PMID: 20937241
    13. ATP synthase deficiency with mutation in TMEM70 should be considered in the diagnosis and management of ill neonates with early onset of muscular hypotonia, HCMP and hypospadias in boys accompanied by lactic acidosis, hyperammonaemia and 3-MGC-uria. PMID: 20335238
    14. TMEM70 is involved in mitochondrial ATP synthase biogenesis in higher eukaryotes. PMID: 18953340
    15. Gene mapping and complementation studies have identified mutations in TMEM70 gene encoding a 30kD mitochondrial protein of unknown function as the cause of hypertrophic cardiomyopathy and encephalopathy. PMID: 19103153

    顯示更多

    收起更多

  • 相關疾病:
    Mitochondrial complex V deficiency, nuclear 2 (MC5DN2)
  • 亞細胞定位:
    Mitochondrion inner membrane; Multi-pass membrane protein.
  • 蛋白家族:
    TMEM70 family
  • 數據庫鏈接:

    HGNC: 26050

    OMIM: 612418

    KEGG: hsa:54968

    STRING: 9606.ENSP00000312599

    UniGene: Hs.106650



主站蜘蛛池模板: 亚洲欧美日韩国产另类电影| 67194成是人免费无码| 无码av中文一区二区三区桃花岛| 国产精品无码无卡无需播放器| 午夜精品久久久久9999| 久九九精品免费视频| 果冻传媒18禁免费视频| 搡老岳熟女国产熟妇| 久章草在线精品视频免费观看| 欧洲精品一卡2卡三卡4卡影视| 日韩少妇人妻vs中文字幕| 欧美变态另类刺激| 99riav国产精品视频| 9久9久女女热精品视频在线观看| 国产明星xxxx色视频| 在线视频观看免费视频18| 麻豆一区二区三区精品视频| av无码久久久久不卡蜜桃| 无码三级中文字幕在线观看| 天堂8在线天堂资源bt| 欧美日韩欧美| 亚洲无线看天堂av| 亚洲精品一区二区国产精华液| 亚洲中文字幕无码永久在线不卡| 日产中文字幕在线观看| 亚洲成年网站青青草原 | 亚洲欧美日韩中文无线码| 色综合天天天天综合狠狠爱| 国产无遮挡又黄又爽不要vip软件| 少妇被猛男粗大的猛进出| 丝袜自慰一区二区三区| 日韩免费无砖专区2020狼 | 欧美午夜特黄aaaaaa片| 无码国产欧美一区二区三区不卡| 欧美肥臀大屁股magnet| 人妻少妇精品久久| 日韩精品无码一区二区三区| 精品无人区码一码二码三码区别| 伊人中文字幕无码专区| 亚洲a∨无码男人的天堂| 日本中国内射bbxx|