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 Ceroid-lipofuscinosis neuronal protein 6 (CLN6)

  • 中文名稱:
    Recombinant Human Ceroid-lipofuscinosis neuronal protein 6(CLN6)
  • 貨號(hào):
    CSB-CF882125HU
  • 規(guī)格:
  • 來(lái)源:
    in vitro E.coli expression system
  • 其他:

產(chǎn)品詳情

  • 基因名:
    CLN6
  • Uniprot No.:
  • 別名:
    CLN6; Ceroid-lipofuscinosis neuronal protein 6; Protein CLN6
  • 種屬:
    Homo sapiens (Human)
  • 蛋白長(zhǎng)度:
    full length protein
  • 表達(dá)區(qū)域:
    1-311
  • 氨基酸序列
    MEATRRRQHLGATGGPGAQLGASFLQARHGSVSADEAARTAPFHLDLWFYFTLQNWVLDF GRPIAMLVFPLEWFPLNKPSVGDYFHMAYNVITPFLLLKLIERSPRTLPRSITYVSIIIF IMGASIHLVGDSVNHRLLFSGYQHHLSVRENPIIKNLKPETLIDSFELLYYYDEYLGHCM WYIPFFLILFMYFSGCFTASKAESLIPGPALLLVAPSGLYYWYLVTEGQIFILFIFTFFA MLALVLHQKRKRLFLDSNGLFLFSSFALTLLLVALWVAWLWNDPVLRKKYPGVIYVPEPW AFYTLHVSSRH
    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(biāo)簽:
    N-terminal 10xHis-tagged
  • 產(chǎn)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(chǔ)存條件:
    Store at -20°C/-80°C upon receipt, aliquoting is necessary for mutiple use. Avoid repeated freeze-thaw cycles.
  • 保質(zhì)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(xiàng):
    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(chǎn)品評(píng)價(jià)

靶點(diǎn)詳情

  • 基因功能參考文獻(xiàn):
    1. The CLN6 is not only a molecular entity of the anti-aggregate activity conferred by the ER manipulation using TMalphaBC, but also serves as a potential target of therapeutic interventions. PMID: 28476624
    2. describe the spectrum of clinical and neurophysiologic features associated with mutations of CLN6. PMID: 26115733
    3. study demonstrates the central role of the metal transporter, Zip7, in the aberrant biometal metabolism of CLN6 variants of Neuronal ceroid lipofuscinoses. PMID: 24581221
    4. The study describes the first report in the North of Morocco of the CLN6 p.I154del mutation in 3 patients belonging to a large consanguineous family. PMID: 23180398
    5. our results add CLN6 to the genetic mutations causing teenage-onset progressive myoclonus epilepsy PMID: 22883287
    6. CLN6 and CLN3 mutations trigger distinct processes that converge on a shared pathway, which is responsible for proper subunit c protein turnover and neuronal cell survival. PMID: 21359198
    7. Sequencing of CLN6 will provide a simple diagnostic strategy in this disorder, in which definitive identification usually requires invasive biopsy. PMID: 21549341
    8. Expression studies of three mutations found in CLN6 patients predicted to affect transmembrane domain 3, cytoplasmic loop 2 or result in a truncated membrane protein respectively, is reported. PMID: 20020536
    9. gene mutated in variant late-infantile neuronal ceroid lipofuscinosis (CLN6) and in nclf mutant mice encodes a novel predicted transmembrane protein PMID: 11727201
    10. novel approximately 36-kD CLN6-gene product augments an intriguing set of unrelated membrane-spanning proteins, whose deficiency causes neuronal ceroid lipofuscinosis in mouse and man PMID: 11791207
    11. Eight novel mutations identified in CLN6 in 26 families with late infantile neuronal ceroid lipofuscinosis. PMID: 12815591
    12. ER-resident CLN6 protein lead to lysosomal dysfunctions, which may result in lysosomal accumulation of storage material PMID: 15010453
    13. CLN6 is an ER resident protein, the activity of which, despite this location, must contribute to lysosomal function. PMID: 15265688
    14. These data indicate that CLN6 mutations, in addition to those of CLN8, should be considered a diagnostic alternative in Turkish variant late-infantile neuronal ceroid lipofuscinosis patients. PMID: 15996215
    15. Cholesterol accumulation in lysosomes suggests a homeostasis block as a result of CLN6p deficiency, while dysfunctional endosomal/lysosomal vesicles may act as one of the triggers for apoptosis and cell death. PMID: 16857350
    16. CLN6 maintains its endoplasmic reticulum localization by expressing retention signals present in both the N-terminal cytosolic domain and in the carboxy-proximal transmembrane domains 6 and 7. PMID: 17453415
    17. knockdown of SEL1L [sel-1 suppressor of lin-12-like (Caenorhabditis elegans)], a member of an E3 ubiquitin ligase complex involved in ER protein extraction, rescued significant amounts of Cln6(G123D) and Cln6(M241T) polypeptides. PMID: 18811591
    18. 11 mutations in patients with neuronal ceroid lipofuscinoses, eight of which are novel, were detected in CLN6, all predicting a direct impairing of the putative gene function. PMID: 19135028
    19. three families with CLN6-associated variant late infantile neuronal ceroid lipofuscinosis from Saudi Arabia are described; one had a novel mutation in the CLN6 gene PMID: 19520283

    顯示更多

    收起更多

  • 相關(guān)疾?。?/div>
    Ceroid lipofuscinosis, neuronal, 6 (CLN6); Ceroid lipofuscinosis, neuronal, 4A (CLN4A)
  • 亞細(xì)胞定位:
    Endoplasmic reticulum membrane; Multi-pass membrane protein. Endoplasmic reticulum.
  • 數(shù)據(jù)庫(kù)鏈接:

    HGNC: 2077

    OMIM: 204300

    KEGG: hsa:54982

    STRING: 9606.ENSP00000249806

    UniGene: Hs.584921



主站蜘蛛池模板: 精品国产一区二区三区色欲| 亚洲国产成人无码网站大全| 久久人搡人人玩人妻精品首页| 亚洲中文字幕无码人在线| 国产成人亚洲日韩欧美| 97色精品视频在线观看| 女人高潮内射99精品| 国产一区二区精品久久岳| 国产精品无码a∨果冻传媒| 成人精品一区二区三区在线观看 | 久久99精品国产99久久6| 熟妇人妻无乱码中文字幕| 50路60路老熟妇啪啪| 国产日韩欧美久久久精品图片| 精品无码一区在线观看| 浴室人妻的情欲hd三级国产| 日本sm/羞辱/调教/捆绑视频 | 色翁荡息又大又硬又粗又爽电影| 天天做av天天爱天天爽| 97国产色伦在色在线播放| 精品久久久无码人妻中文字幕| 亚洲处破女av日韩精品| 日产精品卡2卡三卡乱码网站| 免费女人高潮流视频在线观看| 豆国产97在线 | 亚洲| 五月色丁香婷婷网蜜臀av| 国产做a爰片久久毛片a片美国| 无码丰满熟妇juliaann与黑人| 国产又爽又黄无码无遮挡在线观看| 国产精品丝袜亚洲熟女| 精品人无码一区二区三区| 无码av中文一区二区三区桃花岛| 成人午夜亚洲精品无码区毛片| 四虎成人国产精品永久在线| 亚洲日韩欧美国产高清αv| 欧美 亚洲 国产 另类| 欧美日本日韩aⅴ在线视频| 无码国产成人午夜电影在线观看| 亚洲自偷自偷图片| 三级理论中文字幕在线播放| 一本久久精品一区二区|