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

BCS1L Antibody

  • 中文名稱:
    BCS1L兔多克隆抗體
  • 貨號:
    CSB-PA897463ESR2HU
  • 規格:
    ¥440
  • 圖片:
    • Western blot
      All lanes: BCS1L antibody at 5.04 μg/ml
      Lane 1: Mouse kidney tissue
      Lane 2: Mouse liver tissue
      Lane 3: Mouse brain tissue
      Lane 4: A549 whole cell lysate
      Lane 5: 293T whole cell lysate
      Lane 6: Hela whole cell lysate
      Secondary
      Goat polyclonal to rabbit IgG at 1/10000 dilution
      Predicted band size: 48 kDa
      Observed band size: 48, 30 kDa
    • Immunohistochemistry of paraffin-embedded human glioma using CSB-PA897463ESR2HU at dilution of 1:100
  • 其他:

產品詳情

  • 產品名稱:
    Rabbit anti-Homo sapiens (Human) BCS1L Polyclonal antibody
  • Uniprot No.:
  • 基因名:
  • 別名:
    BCS1L; BCS1; Mitochondrial chaperone BCS1; h-BCS1; BCS1-like protein
  • 宿主:
    Rabbit
  • 反應種屬:
    Human, Mouse
  • 免疫原:
    Recombinant Human Mitochondrial chaperone BCS1 protein (33-240AA)
  • 免疫原種屬:
    Homo sapiens (Human)
  • 標記方式:
    Non-conjugated
  • 克隆類型:
    Polyclonal
  • 抗體亞型:
    IgG
  • 純化方式:
    Antigen Affinity Purified
  • 濃度:
    It differs from different batches. Please contact us to confirm it.
  • 保存緩沖液:
    PBS with 0.02% sodium azide, 50% glycerol, pH7.3.
  • 產品提供形式:
    Liquid
  • 應用范圍:
    ELISA, WB, IHC
  • 推薦稀釋比:
    Application Recommended Dilution
    WB 1:1000-1:5000
    IHC 1:20-1:200
  • Protocols:
  • 儲存條件:
    Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
  • 貨期:
    Basically, we can dispatch the products out in 1-3 working days after receiving your orders. Delivery time maybe differs from different purchasing way or location, please kindly consult your local distributors for specific delivery time.
  • 用途:
    For Research Use Only. Not for use in diagnostic or therapeutic procedures.

產品評價

靶點詳情

  • 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:
    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

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

    HGNC: 1020

    OMIM: 124000

    KEGG: hsa:617

    STRING: 9606.ENSP00000352219

    UniGene: Hs.471401



主站蜘蛛池模板: 18禁美女黄网站色大片免费看| 无码日韩人妻av一区免费| 色香阁综合无码国产在线| 久精品视频在线观看免费| 内射爽无广熟女亚洲| 精品国精品国产自在久国产应用| 18禁美女裸体网站无遮挡| 亚洲日韩欧洲无码av夜夜摸| 国产美熟女乱又伦av果冻传媒| 欧美精品人人做人人爱视频| 精品香蕉一区二区三区| 久久久久久国产精品无码超碰| 亚洲色大网站www永久网站| 西欧free性满足hd| 后入到高潮免费观看| 久久久久人妻精品一区蜜桃 | 亚洲第一最快av网站| 人人爽久久久噜人人看| 久久久97丨国产人妻熟女| av无码av天天av天天爽| 国产精品久久久久永久免费看| 国产成人亚洲高清一区| 国产成人8x人网站在线视频| 国产色综合天天综合网| 精品人妻少妇一区二区三区在线 | 免费萌白酱国产一区二区三区| 国产xxxx做受视频| 最激烈的床震娇喘视频出水| 亚洲精品无amm毛片| 香蕉午夜福利院| 欧美人与动zozo在线播放| 日本污ww视频网站| 国产精品十八禁在线观看| 中年人妻丰满av无码久久不卡 | 国产美女视频国产视视频| 无码国内精品久久人妻| 久久精品中文字幕一区二区三区| 精品国产免费第一区二区三区| 色婷婷av一区二区三区浪潮| 一品二品三品中文字幕| 成人毛片无码免费播放网站|