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

  1. 首頁
  2. 蛋白
  3. 重組蛋白
  4. Recombinant Human Mevalonate kinase (MVK)

Recombinant Human Mevalonate kinase (MVK)

  • 中文名稱：
    Recombinant Human Mevalonate kinase (MVK)
  • 貨號：
    CSB-EP015247HU
  • 規格：
    ￥1836
  • 圖片：
    • (Tris-Glycine gel) Discontinuous SDS-PAGE (reduced) with 5% enrichment gel and 15% separation gel.
  • 其他：

產品詳情

  • 純度：
    Greater than 90% as determined by SDS-PAGE.
  • 生物活性：
    Not Test
  • 基因名：
    MVK
  • Uniprot No.：
  • 種屬：
    Homo sapiens (Human)
  • 蛋白長度：
    Full Length
  • 來源：
    E.coli
  • 分子量：
    48.5 kDa
  • 表達區域：
    1-396aa
  • 氨基酸序列
    MLSEVLLVSAPGKVILHGEHAVVHGKVALAVSLNLRTFLRLQPHSNGKVDLSLPNIGIKRAWDVARLQSLDTSFLEQGDVTTPTSEQVEKLKEVAGLPDDCAVTERLAVLAFLYLYLSICRKQRALPSLDIVVWSELPPGAGLGSSAAYSVCLAAALLTVCEEIPNPLKDGDCVNRWTKEDLELINKWAFQGERMIHGNPSGVDNAVSTWGGALRYHQGKISSLKRSPALQILLTNTKVPRNTRALVAGVRNRLLKFPEIVAPLLTSIDAISLECERVLGEMGEAPAPEQYLVLEELIDMNQHHLNALGVGHASLDQLCQVTRARGLHSKLTGAGGGGCGITLLKPGLEQPEVEATKQALTSCGFDCLETSIGAPGVSIHSATSLDSRVQQALDGL
    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：
    If the delivery form is liquid, the default storage buffer is Tris/PBS-based buffer, 5%-50% glycerol. If the delivery form is lyophilized powder, the buffer before lyophilization is Tris/PBS-based buffer, 6% Trehalose, pH 8.0.
  • 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：
    Basically, we can dispatch the products out in 3-7 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.
  • 注意事項：
    Repeated freezing and thawing is not recommended. Store working aliquots at 4℃ for up to one week.
  • Datasheet & COA：
    Please contact us to get it.

產品評價

靶點詳情

  • 功能：
    Catalyzes the phosphorylation of mevalonate to mevalonate 5-phosphate, a key step in isoprenoid and cholesterol biosynthesis.
  • 基因功能參考文獻：
    1. The findings suggest that the MVK rs2287218 SNP is likely to increase the risk of CHD and IS by decreasing serum HDL-C levels in our study populations. PMID: 30101835
    2. Case Report: homozygous missense p.Cys161Arg in MVK was identified in family members with familial Mediterranean fever. PMID: 29148404
    3. Mevalonate kinase deficiency (MKD) can be associated with retinitis pigmentosa (RP) and early onset cataract. Most MKD patients developing RP carry the (p.Ala334Thr) mutation. PMID: 28095071
    4. In a cohort of mevalonate kinase deficiency patients, ninety-six (84%) of the patients harbored at least 1 p.V377I mutation, 14 (12%) of which were homozygous. The second most frequent mutation was p.I268T, occurring in 29 (25%) of the patients. None of them were p.I268T homozygous. A p.C152Y mutation was found in 1 patient. PMID: 27213830
    5. These findings suggest that rs11066782 in KCTD10, rs11613718 in KCTD10 and rs11067233 in MMAB may contribute to the susceptibility of coronary heart disease by altering plasma HDL-C levels in Han Chinese. PMID: 27716295
    6. this study extends the mutation spectrum of MVK; MVK protein stability and correct folding might be the molecular mechanism causing disseminated superficial actinic porokeratosis PMID: 26794421
    7. Wild-type MK and the variant V261A, which is associated with HIDS, were recombinantly expressed in Escherichia coli. Enzyme activity was determined by formation of MVAP over time PMID: 25982894
    8. predictive analysis of mutations in MVK to predict disease severity PMID: 26420133
    9. study reports a novel mutation of the MVK gene in Chinese patients with disseminated superficial actinic porokeratosis (DSAP); result confirms the involvement of MVK gene in DSAP PMID: 25059119
    10. mutations are responsible for porokeratosis of Mibelli development in Chinese families PMID: 24781643
    11. results from this 4 generation family imply a causal relationship between MVK and perokeratosis. PMID: 25053464
    12. Results suggest that the effects of MVK mutations in Behcet's disease could be an additional genetic susceptibility factor for the patients with neurological involvement. PMID: 24411001
    13. The testing for the Hyper IgD Syndrome was positive for the pV377I/c.1129 G>A heterozygosity in a patient with periodic fever. PMID: 24708999
    14. Report a novel missense mutation in mevalonate kinase responsible for disseminated superficial actinic porokeratosis. PMID: 24551296
    15. study reportstwo novel mutations of the MVK gene in Chinese patients with disseminated superficial actinic porokeratosis PMID: 24008101
    16. These results suggest that hCG-induced down-regulation of LHR mRNA expression is mediated by activation of cAMP/PKA/ERK pathways to increase miR-122 expression, which then increases LRBP expression through the activation of SREBPs. PMID: 24064360
    17. Results identify a novel frameshift mutation in this gene implicated in disseminated superficial actinic porokeratosis in 4 Chinese families PMID: 23834120
    18. In the current article, we add another phenotype to the spectrum of diverging disorders associated with mutations in MVK. PMID: 24084495
    19. Novel mutations of MVK gene in Japanese family members affected with hyperimmunoglobulinemia D and periodic fever syndrome. This is the first case in which exon skipping mutation of the MVK gene has been certainly identified at the genomic DNA level. PMID: 22159817
    20. hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) patients carried 11 different MVK mutations mostly in compound heterozygosity; the most frequent mutation was p.Val377Ile; in Germany, the incidence of HIDS is very low PMID: 22038276
    21. MVK has a role in regulating calcium-induced keratinocyte differentiation and could protect keratinocytes from apoptosis induced by type A ultraviolet radiation. PMID: 22983302
    22. This atypical presentation of MA suggests that it should be included in the differential diagnosis of unclassified patients with psychomotor retardation, failure to thrive or ataxia, even in the absence of febrile episodes. PMID: 22271696
    23. The farnesyltransferase inhibitors tipifarnib and lonafarnib inhibit cytokines secretion in a cellular model of mevalonate kinase deficiency. PMID: 21430599
    24. Significant liver disease in a patient with Y116H mutation in the MVK gene. PMID: 21548022
    25. data show that LH-regulated ERK1/2 signaling is required for the LRBP-mediated down-regulation of LHR mRNA PMID: 21147848
    26. Results support that deleterious copy number alterations in MVK, NLRP3 and TNFRSF1A are rare or absent from the mutational spectrum of hereditary recurrent fevers. PMID: 21124859
    27. Report mevalonate kinase deficiency compromized fiberoblast geranylgeranylation of RhoA and Rac1. PMID: 20814828
    28. These data suggest MMAB is the most likely gene influencing high-density lipoprotein-cholesterol levels at MMAB-MVK locus. PMID: 20159775
    29. A novel missense mutation in mevalonate kinase (Tyr116His) is associated with mevalonate kinase deficiency and dyserythropoietic anemia. PMID: 20194276
    30. Mutations of MVK found in hyper-IgD and periodic fever syndrome patients affect the stability and/or maturation of MVK in vitro in a temperature-sensitive manner and may explain the chain of events leading to episodic inflammation and fever. PMID: 12444096
    31. Isoprenoid and cholesterol biosynthesis still occurs in cells from mevalonate kinase-deficient patients. PMID: 12477733
    32. Carrier frequency of 1:65 overestimates disease frequency, probably due to a reduced penetrance of V377I homozygosity. PMID: 12634869
    33. The subcellular localisation of human mevalonate kinase (MK) use a variety of biochemical and microscopical techniques. PMID: 14730012
    34. LH receptor mRNA-binding protein (LRBP) is a a novel trans-factor for luteinizing hormone receptor mRNA from ovary. PMID: 14749336
    35. Mevalonic aciduria, with psychomotor retardation, cerebellar ataxia, recurrent fever, and death in early childhood, and hyper-immunoglobulin D syndrome, with recurrent fever attacks without neurologic symptoms, are caused by mevalonate kinase deficiency PMID: 15037710
    36. Mutations in the coding region of the MVK gene were detected in 6 hyperimmunoglobulinemia D patients, and the most common mutation was V377I. PMID: 15188372
    37. Several hydrophobic amino acid side chains are positioned near the polyisoprenoid chain of FSP & their functional significance has been evaluated in mutagenesis experiments with human MK, which exhibits highest reported sensitivity to feedback inhibition. PMID: 18302342
    38. an intact active site of MVK is required for its binding to rat LHR mRNA and for its translational suppressor function PMID: 18494797
    39. homozygosity for the mutation of the MVK gene has been reported in an Asian patient, and indicated a need for differentiation. PMID: 18941711
    40. For the SNPs KCTD10_i5642G-->C and MVK_S52NG-->A, homozygotes for the major alleles (G) had lower HDL-cholesterol concentrations than did carriers of the minor alleles (P = 0.005 and P = 0.019, respectively). PMID: 19605566

    顯示更多

    收起更多

  • 相關疾病：
    Mevalonic aciduria (MEVA); Hyperimmunoglobulinemia D and periodic fever syndrome (HIDS); Porokeratosis 3, multiple types (POROK3)
  • 亞細胞定位：
    Cytoplasm. Peroxisome.
  • 蛋白家族：
    GHMP kinase family, Mevalonate kinase subfamily
  • 數據庫鏈接：

    HGNC: 7530

    OMIM: 175900

    KEGG: hsa:4598

    STRING: 9606.ENSP00000228510

    UniGene: Hs.130607



主站蜘蛛池模板： 97精品一区二区视频在线观看 | 色综合中文综合网| 无码精品国产一区二区三区免费| 久久香蕉国产线看观看亚洲小说| 色五月丁香五月综合五月| 五月天中文字幕mv在线| 亚洲妓女综合网99| 色欲久久人妻内射| 亚洲r成人av久久人人爽| 久久婷婷成人综合色综合| 免费三级现频在线观看免费| 亚洲国产专区校园欧美| 亚洲精品久久久久午夜aⅴ| 国产成人精品999在线观看| 最近在线更新8中文字幕免费| 亚洲欧美日韩中字视频三区| 国产成人综合久久免费| 欧美乱妇日本无乱码特黄大片| 久久久www成人免费精品| 久久国产精品免费一区| 国产手机在线无码播放视频| 国产精品18久久久久久麻辣| 国产成人一区二区三区在线观看 | 2020久久国产综合精品swag| 亚洲综合区图片小说区| 搡8o老女人老妇人老熟| 久久精品熟女亚州av麻豆| 欧美日韩一本的免费高清视频| 国产午夜手机精彩视频| 精品久久久久久久久中文字幕| 男女下面一进一出好爽视频| 果冻传媒18禁免费视频 | 成人av片无码免费网站| 又爽又色禁片1000视频免费看 | 粗大的内捧猛烈进出| 少妇又紧又色又爽又刺激视频| 日韩内射激情视频在线播放免费 | 人人澡人人妻人人爽人人蜜桃麻豆 | 西西人体大胆啪啪实拍| 99在线精品视频观看免费| 97精品久久久久中文字幕|