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: 亚拍精品一区二区三区探花| 亚洲成av人片在线观看无码不卡| 国产成a人亚洲精品无码久久网| 国产精品毛片av在线看| 最新国产aⅴ精品无码| 成码无人av片在线电影网站| 国产奶头好大揉着好爽视频| 亚洲色成人一区二区三区小说 | 国产99爱在线视频免费观看| 最近免费中文字幕mv在线视频3| 性xxxx欧美老妇胖老太269| 免费看国产精品3a黄的视频| 久久婷婷五月综合鬼色| 国产特级毛片aaaaaa高潮流水 | 久久香蕉国产线看观看亚洲小说| 欧洲一卡2卡3卡4卡乱码视频 | 成在线人av无码高潮喷水| 亚洲嫩模喷白浆在线观看| 国产精品麻豆欧美日韩ww | 欧美又粗又大又黄的片| 在线播放国产麻豆va剧情| 免费中文熟妇在线影片| 亚洲精品熟女国产| 蜜臀av色欲a片无码一区| 波多野结衣潮喷视频无码42| 国产精品激情av久久久青桔| 女人张开腿让男人桶爽| 天天躁久久躁日日躁| 人人爽人人爽人人爽| 一区二区乱子伦在线播放| 精品日产卡一卡二卡麻豆| 久久综合给合久久狠狠97色 | 夜爽8888视频在线观看| 日本无码人妻精品一区二区蜜桃| 真实国产乱子伦对白在线播放 | 午夜无码片在线观看影院| 精品国产你懂的在线观看| 色欲综合久久躁天天躁| 国产成人无码aⅴ片在线观看 | 香蕉久久精品日日躁夜夜躁夏| 国产成人精品三上悠亚|