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 Mitochondrial chaperone BCS1 (BCS1L)

  • 中文名稱:
    Recombinant Human Mitochondrial chaperone BCS1(BCS1L)
  • 貨號(hào):
    CSB-CF897463HU
  • 規(guī)格:
  • 來源:
    in vitro E.coli expression system
  • 其他:

產(chǎn)品詳情

  • 基因名:
  • Uniprot No.:
  • 別名:
    BCS1L; BCS1; Mitochondrial chaperone BCS1; h-BCS1; BCS1-like protein
  • 種屬:
    Homo sapiens (Human)
  • 蛋白長度:
    full length protein
  • 表達(dá)區(qū)域:
    1-419
  • 氨基酸序列
    MPLSDFILALKDNPYFGAGFGLVGVGTALALARKGVQLGLVAFRRHYMITLEVPARDRSY AWLLSWLTRHSTRTQHLSVETSYLQHESGRISTKFEFVPSPGNHFIWYRGKWIRVERSRE MQMIDLQTGTPWESVTFTALGTDRKVFFNILEEARELALQQEEGKTVMYTAVGSEWRPFG YPRRRRPLNSVVLQQGLADRIVRDVQEFIDNPKWYTDRGIPYRRGYLLYGPPGCGKSSFI TALAGELEHSICLLSLTDSSLSDDRLNHLLSVAPQQSLVLLEDVDAAFLSRDLAVENPVK YQGLGRLTFSGLLNALDGVASTEARIVFMTTNHVDRLDPALIRPGRVDLKEYVGYCSHWQ LTQMFQRFYPGQAPSLAENFAEHVLRATNQISPAQVQGYFMLYKNDPVGAIHNAESLRR
    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

  • 功能:
    Chaperone necessary for the assembly of mitochondrial respiratory chain complex III. Plays an important role in the maintenance of mitochondrial tubular networks, respiratory chain assembly and formation of the LETM1 complex.
  • 基因功能參考文獻(xiàn):
    1. The BCSIL gene mutation is responsible for GRACILE syndrome, Bjornstad syndrome and complex III deficiency. Bjomstad syndrome is characterized by sensorineural hearing loss and abnormal flat twisted hair shafts. The case is GRACILE syndrome with Bjomstad phenotype in neonatal period due to BCSL1 gene mutation. PMID: 30226971
    2. We report the first Italian patients with Bjornstad syndrome, two siblings with pili torti and sensorineural hearing loss, in whom we detected two novel compound heterozygous mutations in BCS1L PMID: 28322498
    3. * Description of a novel homozygous mutation in BCS1L with transient neonatal acidosis and persistent de Toni-Debre-Fanconi-type tubulopathy. * The long survival of patients with phenotypic presentation of severe complex III deficiency is uncommon. PMID: 26563427
    4. Extensive statistical and cluster analyses revealed a protein profile characteristic for the BCS1L mutant fibroblasts that included alterations in energy metabolism, cell signaling and gene expression regulation, cytoskeleton formation and maintenance. PMID: 25239759
    5. Exome sequencing revealed novel BCS1L mutations in two siblings with Bjornstad syndrome characterized by hearing loss and hypotrichosis. PMID: 25895478
    6. A novel behavioral and psychiatric phenotype associated with a p.Gly129Arg BCS1L mutation. PMID: 22991165
    7. This region encompasses the BCS1L gene. PMID: 24172246
    8. These results provide new insights into the role of pathogenic BCS1L mutations in mitochondrial function and dynamics. PMID: 20518024
    9. GRACILE syndrome, a lethal metabolic disorder with iron overload, is caused by a point mutation in BCS1L PMID: 12215968
    10. a function of BCS1L is to promote the maturation of complex III and the incorporation of the Rieske iron-sulfur protein into the nascent complex. Defective BCS1L leads to the formation of a catalytically inactive, structurally unstable complex III. PMID: 17403714
    11. assessed whether 232A-->G or other BCS1L mutations were present in infants (n = 21) of Finnish origin with severe, lethal disease compatible with mitochondrial disorder PMID: 18386115
    12. BCS1L stimulates the assembly of the LETM1 complex. BCS1L knockdown caused disassembly of the respiratory chains as well as LETM1 downregulation and induced distinct changes in mitochondrial morphology. PMID: 18628306
    13. The severity of the complex III enzyme defect correlated with decreased amounts of BCS1L and respiratory chain complex III. This supports a pathogenic role for the novel BCS1L mutation in a patient with a singular clinical phenotype. PMID: 19162478
    14. The g.1181A>G mutation generated an alternative splicing site in the BCS1L transcript, causing a 19-nucleotides deletion in its 5'UTR region and Complex III deficiency. PMID: 19389488
    15. mitochondrial complex III deficiency caused by mutations in the BCS1L gene PMID: 19508421

    顯示更多

    收起更多

  • 相關(guān)疾病:
    GRACILE syndrome (GRACILE); Mitochondrial complex III deficiency, nuclear 1 (MC3DN1); Bjoernstad syndrome (BJS)
  • 亞細(xì)胞定位:
    Mitochondrion inner membrane; Single-pass membrane protein.
  • 蛋白家族:
    AAA ATPase family, BCS1 subfamily
  • 組織特異性:
    Ubiquitous.
  • 數(shù)據(jù)庫鏈接:

    HGNC: 1020

    OMIM: 124000

    KEGG: hsa:617

    STRING: 9606.ENSP00000352219

    UniGene: Hs.471401



主站蜘蛛池模板: 亚洲性猛交xxxx| 天天摸夜夜摸夜夜狠狠摸| 亚洲 欧美 国产 综合免费| 人妻少妇精品专区性色av| 在线播放五十路熟妇| 西西人体444www高清大胆| 成人免费无码不卡毛片| 日本熟妇色xxxxxhd| 一本大道无码人妻精品专区 | 亚洲日韩欧美一区二区三区在线| 国产精品偷窥熟女精品视频| 亚洲国产美女久久久久| 午夜免费啪视频在线18| 久久久精品国产sm调教网站| 奇米影视7777久久精品| 波多野结衣一区二区三区av免费| 免费无人区男男码卡二卡| 亚洲一区二区观看播放| 蜜臀精品无码av在线播放| 97人摸人人澡人人人超碰| 在线观看国产日韩亚洲中| 精品噜噜噜噜久久久久久久久| 韩国精品一区二区无码视频| 久久97精品久久久久久久不卡| 日本工口里番无遮█彩色| 久久人人做人人妻人人玩精品hd | 人牛交vide欧美xxxx| 男阳茎进女阳道视频大全| 男男车车的车车网站w98免费| 50岁熟妇的呻吟声对白| 老司机久久一区二区三区| 亚洲综合激情另类小说区| 亚洲精品国产精华液| 中文有码无码人妻在线| av网站的免费观看| 欧美老妇bbbwwbbbww| 少妇大叫太大太粗太爽了a片小说| 少妇无码吹潮| 国产极品粉嫩泬免费观看| 国产杨幂av在线播放| 亚洲精品少妇高清30p|