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BCS1L Antibody

  • 货号：
    CSB-PA002644GA01HU
  • 规格：
    ￥3,900
  • 其他：

产品详情

  • Uniprot No.：
    Q9Y276
  • 基因名：
  • 别名：
    BCS1L; BCS1; Mitochondrial chaperone BCS1; h-BCS1; BCS1-like protein
  • 宿主：
    Rabbit
  • 反应种属：
    Human,Mouse,Rat
  • 免疫原：
    Human BCS1L
  • 免疫原种属：
    Homo sapiens (Human)
  • 抗体亚型：
    IgG
  • 纯化方式：
    Antigen Affinity Purified
  • 浓度：
    It differs from different batches. Please contact us to confirm it.
  • 保存缓冲液：
    PBS with 0.1% Sodium Azide, 50% Glycerol, pH 7.3. -20°C, Avoid freeze / thaw cycles.
  • 产品提供形式：
    Liquid
  • 应用范围：
    ELISA,WB,IHC
  • Protocols：
  • 储存条件：
    Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
  • 货期：
    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.

产品评价

靶点详情

  • 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.
  • 基因功能参考文献：
    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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  • 相关疾病：
    GRACILE syndrome (GRACILE); Mitochondrial complex III deficiency, nuclear 1 (MC3DN1); Bjoernstad syndrome (BJS)
  • 亚细胞定位：
    Mitochondrion inner membrane; Single-pass membrane protein.
  • 蛋白家族：
    AAA ATPase family, BCS1 subfamily
  • 组织特异性：
    Ubiquitous.
  • 数据库链接：

    HGNC: 1020

    OMIM: 124000

    KEGG: hsa:617

    STRING: 9606.ENSP00000352219

    UniGene: Hs.471401