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Recombinant Human Mitochondrial chaperone BCS1 (BCS1L)

  • 中文名稱：
    Recombinant Human Mitochondrial chaperone BCS1(BCS1L)
  • 貨號：
    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
  • 表達區(qū)域：
    1-419
  • 氨基酸序列
    MPLSDFILALKDNPYFGAGFGLVGVGTALALARKGVQLGLVAFRRHYMITLEVPARDRSY AWLLSWLTRHSTRTQHLSVETSYLQHESGRISTKFEFVPSPGNHFIWYRGKWIRVERSRE MQMIDLQTGTPWESVTFTALGTDRKVFFNILEEARELALQQEEGKTVMYTAVGSEWRPFG YPRRRRPLNSVVLQQGLADRIVRDVQEFIDNPKWYTDRGIPYRRGYLLYGPPGCGKSSFI TALAGELEHSICLLSLTDSSLSDDRLNHLLSVAPQQSLVLLEDVDAAFLSRDLAVENPVK YQGLGRLTFSGLLNALDGVASTEARIVFMTTNHVDRLDPALIRPGRVDLKEYVGYCSHWQ LTQMFQRFYPGQAPSLAENFAEHVLRATNQISPAQVQGYFMLYKNDPVGAIHNAESLRR
    Note: The complete sequence including tag sequence, target protein sequence and linker sequence could be provided upon request.
  • 蛋白標簽：
    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：
    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

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  • 相關(guān)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(shù)據(jù)庫鏈接：

    HGNC: 1020

    OMIM: 124000

    KEGG: hsa:617

    STRING: 9606.ENSP00000352219

    UniGene: Hs.471401