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POC1A Antibody

  • 货号：
    CSB-PA822753ESR2HU
  • 规格：
    ￥440
  • 促销：
    小规格抗体限时一口价
  • 图片：
    • Immunohistochemistry of paraffin-embedded human testis tissue using CSB-PA822753ESR2HU at dilution of 1:100
    • Immunohistochemistry of paraffin-embedded human adrenal gland tissue using CSB-PA822753ESR2HU at dilution of 1:100
  • 其他：

产品详情

  • 产品名称：
    Rabbit anti-Homo sapiens (Human) POC1A Polyclonal antibody
  • Uniprot No.：
    Q8NBT0
  • 基因名：
    POC1A
  • 别名：
    Pix2 antibody; POC1 centriolar protein homolog A (Chlamydomonas) antibody; POC1 centriolar protein homolog A antibody; Poc1a antibody; POC1A_HUMAN antibody; WD repeat containing protein 51A antibody; WD repeat domain 51A antibody; WD repeat-containing protein 51A antibody
  • 宿主：
    Rabbit
  • 反应种属：
    Human
  • 免疫原：
    Recombinant Human POC1 centriolar protein homolog A protein (138-407AA)
  • 免疫原种属：
    Homo sapiens (Human)
  • 标记方式：
    Non-conjugated
  • 克隆类型：
    Polyclonal
  • 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, pH7.3.
  • 产品提供形式：
    Liquid
  • 应用范围：
    ELISA, IHC
  • 推荐稀释比：
    Application Recommended Dilution
    IHC 1:20-1:200
  • 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：
    Plays an important role in centriole assembly and/or stability and ciliogenesis. Involved in early steps of centriole duplication, as well as in the later steps of centriole length control. Acts in concert with POC1B to ensure centriole integrity and proper mitotic spindle formation.
  • 基因功能参考文献：
    1. we report the first patient with SOFT syndrome harboring compound heterozygous variants of POC1A. understanding POC1A mutations may provide appropriate management and genetic counseling to these patients and their families. PMID: 26791357
    2. Result identified a novel mutation in POC1A of patients with primordial dwarfism and showed that this mutation causes the formation of multiple numbers of centrioles and multipolar spindles with abnormal chromosome arrangement. PMID: 26162852
    3. POC1A may be added to ALMS1 and PCNT as examples of centrosomal or pericentriolar proteins whose dysfunction leads to extreme dyslipidaemic insulin resistance. PMID: 26336158
    4. Poc1A and Poc1B play redundant, but essential, roles in generation of stable centrioles, but Poc1B may have additional independent functions during cell cycle progression. PMID: 23015594
    5. Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis syndrome is caused by a POC1A mutation. PMID: 22840363
    6. POC1A truncation mutation causes a ciliopathy in humans characterized by primordial dwarfism. PMID: 22840364
    7. Based on these data, we propose that Pix1 and Pix2 are microtubule-associated adaptor proteins that likely contribute to a range of developmental and cell division processes. PMID: 18068700

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  • 相关疾病：
    Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis (SOFT)
  • 亚细胞定位：
    Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole. Cytoplasm, cytoskeleton, cilium basal body. Cytoplasm, cytoskeleton, spindle pole. Note=Component of both mother and daughter centrioles.
  • 蛋白家族：
    WD repeat POC1 family
  • 数据库链接：

    HGNC: 24488

    OMIM: 614783

    KEGG: hsa:25886

    STRING: 9606.ENSP00000296484

    UniGene: Hs.476306