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BFSP1 Antibody

  • 货号：
    CSB-PA002680GA01HU
  • 规格：
    ￥3,900
  • 其他：

产品详情

  • Uniprot No.：
    Q12934
  • 基因名：
    BFSP1
  • 别名：
    Beaded filament structural protein 1 antibody; Beaded filament structural protein 1 filensin antibody; BFSP1 antibody; BFSP1_HUMAN antibody; CP115 antibody; CP94 antibody; CP95 antibody; Cytoskeletal protein; 115 KD antibody; Filensin antibody; Lens fiber cell beaded filament structural protein CP 115 antibody; Lens fiber cell beaded-filament structural protein CP 115 antibody; Lens intermediate filament like heavy antibody; Lens intermediate filament-like heavy antibody; LIFL H antibody; LIFL-H antibody
  • 宿主：
    Rabbit
  • 反应种属：
    Human
  • 免疫原：
    Human BFSP1
  • 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 0.02% 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,IF
  • 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：
    Required for the correct formation of lens intermediate filaments as part of a complex composed of BFSP1, BFSP2 and CRYAA. Involved in altering the calcium regulation of MIP water permeability.
  • 基因功能参考文献：
    1. The results suggest that the N-terminal domain of CRYAA is required during in vitro complex formation with filensin and phakinin. PMID: 28935373
    2. A novel mutation (c.1042G>A) at exon 7 of BFSP1, which creates a substitution of an aspartate to an asparagine (p.D348N) was identified to be associated with autosomal dominant congenital cataract in a Chinese family. PMID: 24379646
    3. The crystallin beta cluster on chromosome 22, GJA3, and BFSP1 play a major role in maintaining lens transparency. PMID: 24319337
    4. This is the first report of a mutation in the BFSP1 gene associated with human inherited cataracts. PMID: 17225135
  • 相关疾病：
    Cataract 33, multiple types (CTRCT33)
  • 亚细胞定位：
    Cell membrane; Peripheral membrane protein; Cytoplasmic side. Cytoplasm. Cytoplasm, cytoskeleton. Cytoplasm, cell cortex.
  • 蛋白家族：
    Intermediate filament family
  • 组织特异性：
    Expressed in the cortex and nucleus of the retina lens (at protein level).
  • 数据库链接：

    HGNC: 1040

    OMIM: 603307

    KEGG: hsa:631

    STRING: 9606.ENSP00000367104

    UniGene: Hs.129702