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  4. Recombinant Human NADH-ubiquinone oxidoreductase chain 4 (MT-ND4), partial

Recombinant Human NADH-ubiquinone oxidoreductase chain 4 (MT-ND4), partial

  • 中文名稱：
    人MT-ND4重組蛋白
  • 貨號：
    CSB-YP015079HU
  • 說明書：
  • 規(guī)格：
  • 來源：
    Yeast
  • 其他：
  • 中文名稱：
    人MT-ND4重組蛋白
  • 貨號：
    CSB-EP015079HU
  • 說明書：
  • 規(guī)格：
  • 來源：
    E.coli
  • 其他：
  • 中文名稱：
    人MT-ND4重組蛋白
  • 貨號：
    CSB-EP015079HU-B
  • 說明書：
  • 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MT-ND4重組蛋白
  • 貨號：
    CSB-BP015079HU
  • 說明書：
  • 規(guī)格：
  • 來源：
    Baculovirus
  • 其他：
  • 中文名稱：
    人MT-ND4重組蛋白
  • 貨號：
    CSB-MP015079HU
  • 說明書：
  • 規(guī)格：
  • 來源：
    Mammalian cell
  • 其他：

產品詳情

  • 純度：
    >85% (SDS-PAGE)
  • 基因名：
  • Uniprot No.：
  • 別名：
    MT-ND4; MTND4; NADH dehydrogenase subunit 4; NADH-ubiquinone oxidoreductase chain 4; NADH4; ND4; NU4M_HUMAN
  • 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.
  • 產品提供形式：
    Lyophilized powder Warning: in_array() expects parameter 2 to be array, null given in /www/web/cusabio_cn/public_html/caches/caches_template/default/content/show_product_protein.php on line 662
    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.

產品評價

靶點詳情

  • 功能：
    Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) which catalyzes electron transfer from NADH through the respiratory chain, using ubiquinone as an electron acceptor. Essential for the catalytic activity and assembly of complex I.
  • 基因功能參考文獻：
    1. The mitochondrial haplogroup D4j specific m.11696G > A mutation may act in synergy with the primary Leber's hereditary optic neuropathy-associated m.11778G > A mutation, thereby increasing the penetrance and expressivity of visual loss in these Chinese families. PMID: 27159682
    2. A missense mutation, m.11778G>A (p.R340H), in the ND4 gene was identified in eight patients and three asymptomatic carriers, even though the incidence of this has been considered low in Chinese population. PMID: 29116953
    3. The first detailed study of Indian LHON patients confirm that the m.11778G>A-related LHON in India coexists with multiple different mtDNA haplogroups, unlike the preferential association of west Eurasian haplogroup J and the reported increased clinical penetrance with the J2 subhaplogroup. PMID: 28768321
    4. MT-ND4 and MT-TL1 genetic variation might be associated with male infertility in Chinese patients. PMID: 27973917
    5. this paper identified m.11240C4T in ND4 as a novel mitochondrial disease-related mtDNA mutation in Leigh syndrome. PMID: 27761019
    6. We identified a genetic association between the MT-ND4 11719 A/G polymorphism and Ulcerative Colitis in the subgroup of males. The male-specific association indicates differences between males and females concerning the impact of mitochondrial gene polymorphisms on the development of Ulcerative Colitis. PMID: 27716073
    7. The molecular study of a family with one member with Leber hereditary optic neuropathy found the mitochondrial mutation m.11778G>A in MT-ND4. PMID: 26683077
    8. the ND4 gene is the hot spot for mutations associated with Leber's hereditary optic neuropathy PMID: 26218905
    9. Expression of WT human ND4 in cells with the G11778A mutation in ND4 led to restoration of defective ATP synthesis. PMID: 22523243
    10. altered activity of complex III modulates the phenotypic manifestation of Leber's hereditary optic neuropathy-associated ND4 G11778A mutation PMID: 21742061
    11. Patients with somatically acquired ND4 mutations had significantly longer relapse-free survival (P=0.017) and overall survival (OS) (P=0.021) than ND4(wildtype) patients PMID: 21826063
    12. Our data emphasize the important role of MTND mutations in the pathogenicity of MELAS, especially MELAS/LS overlap syndrome. PMID: 21850008
    13. The specific mtDNA background B5a1 was significantly associated with Southeast Asian G11778A LHON and appeared to modify the risk of visual loss. PMID: 21398275
    14. mitochondrial haplogroup M9a specific variant T3394C may modulate the phenotypic manifestation of LHON-associated G11778A mutation in Chinese pedigrees. PMID: 20728388
    15. These results suggest that a different set of LHON-causing mutations is present in the South Indian population than in the European population PMID: 20809775
    16. Molecular analysis of mitochondrial genome identified the known ND4 G11778A mutation and 51 variants, belonging to Asian haplogroup C4a1. PMID: 20627642
    17. Twenty-five subjects with Leber hereditary optic neuropathy (LHON) and 21 carriers positive for the G11778A mitochondrial DNA mutation were recruited. Three additional mutations in the ND4 gene, G11719A, G11947A, or G11914A, were detected. PMID: 20837795
    18. Treatment of acute visual loss due to LHON may be possible with a normal human ND4 subunit gene of complex I, mutated in most cases of LHON, when delivered by an scAAV vector. PMID: 20625049
    19. Therefore, nuclear modifier gene(s) or environmental factor(s) may play a role in the phenotypic expression of the LHON-associated G11696A mutation in these Chinese pedigrees. PMID: 16364244
    20. A novel missense mutation (C11994T) in the ND4 gene, which replaces threonine with isoleucine, was observed in all of the oligoasthenozoospermic men but not in any of the normozoospermic fertile men. PMID: 17069814
    21. Sequence analysis of the complete mitochondrial DNA in this pedigree revealed the presence of the homoplasmic ND4 G11778A mutation and 33 other variants. PMID: 17300996
    22. In situ hybridizations of deparaffinized human lung tissue slices derived from wt-CFTR or cystic fibrosis patients showed downregulation of ND4 in CF. PMID: 17382898
    23. result suggests that mtDNA mutation occurs before tumorigenesis and become apparent in cancer cells PMID: 17509949
    24. Further analyzed the oligoasthenozoospermic samples from a previous systematic study of infertile Portuguese men and found no instance of C11994T mutation in mitochondrial ND4 gene. PMID: 17517394
    25. the G11696A mutation may act in synergy with the primary deafness-associated 12S rRNA A1555G mutation in a Chinese family, thereby increasing the penetrance and expressivity of hearing loss in this Chinese pedigree [case report] PMID: 17723226
    26. electroporation with wild-type ND4 prevented both RGC loss and the impairment of visual function. PMID: 18771762
    27. The extremely low penetrance of vision loss in these 8 Chinese pedigrees strongly indicates that the G11778A mutation was itself insufficient to produce a clinical phenotype. PMID: 19167085
    28. G10680A mutation of ND4 may play a synergistic role with the primary mutation T14484C of ND6, leading to the complete penetrance of Leber's hereditary optic neuropathy in the presenting family. PMID: 19394449

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  • 相關疾?。?/div>
    Leber hereditary optic neuropathy (LHON); Leber hereditary optic neuropathy with dystonia (LDYT); Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes syndrome (MELAS)
  • 亞細胞定位：
    Mitochondrion inner membrane; Multi-pass membrane protein.
  • 蛋白家族：
    Complex I subunit 4 family
  • 數據庫鏈接：

    HGNC: 7459

    OMIM: 500001

    KEGG: hsa:4538

    STRING: 9606.ENSP00000354961



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