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CFAP410 Antibody

  • 货号：
    CSB-PA003758LA01HU
  • 规格：
    ￥440
  • 促销：
    小规格抗体限时一口价
  • 图片：
    • Immunohistochemistry of paraffin-embedded human gastric cancer using CSB-PA003758LA01HU at dilution of 1:100
  • 其他：

产品详情

  • 产品名称：
    Rabbit anti-Homo sapiens (Human) C21orf2 Polyclonal antibody
  • Uniprot No.：
    O43822
  • 基因名：
    C21orf2
  • 别名：
    A2 antibody; C21orf HUMF09G8.5 antibody; C21orf-HUMF09G8.5 antibody; C21orf2 antibody; Chromosome 21 open reading frame 2 antibody; CU002_HUMAN antibody; Hypothetical protein LOC755 antibody; Nuclear encoded mitochondrial protein cDNA A2 YF5 antibody; Protein C21orf2 antibody; Uncharacterized protein C21orf2 antibody; YF 5 antibody; YF5 antibody; YF5/A2 antibody
  • 宿主：
    Rabbit
  • 反应种属：
    Human
  • 免疫原：
    Recombinant Human Cilia- and flagella-associated protein 410 protein (1-200AA)
  • 免疫原种属：
    Homo sapiens (Human)
  • 标记方式：
    Non-conjugated

    本页面中的产品，CFAP410 Antibody (CSB-PA003758LA01HU)，的标记方式是Non-conjugated。对于CFAP410 Antibody，我们还提供其他标记。见下表：

    可提供标记
    标记方式 货号 产品名称 应用
    HRP CSB-PA003758LB01HU CFAP410 Antibody, HRP conjugated ELISA
    FITC CSB-PA003758LC01HU CFAP410 Antibody, FITC conjugated
    Biotin CSB-PA003758LD01HU CFAP410 Antibody, Biotin conjugated ELISA
  • 克隆类型：
    Polyclonal
  • 抗体亚型：
    IgG
  • 纯化方式：
    >95%, Protein G purified
  • 浓度：
    It differs from different batches. Please contact us to confirm it.
  • 保存缓冲液：
    Preservative: 0.03% Proclin 300
    Constituents: 50% Glycerol, 0.01M PBS, PH 7.4
  • 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 a role in cilia formation and/or maintenance. Plays a role in the regulation of cell morphology and cytoskeletal organization. Involved in DNA damage repair.
  • 基因功能参考文献：
    1. Identification of a homozygous C21orf2 mutation in this case emphasizes the value of exome sequencing for simultaneously screening known genes and identifying novel genes.the severity of thoracic restriction in this case adds to the phenotypic spectrum attributable to C21orf2 mutations. PMID: 28422394
    2. Mutation in C21ORF2 gene is associated with amyotrophic lateral sclerosis. PMID: 27455348
    3. reduced levels of functional C21orf2 induced photoreceptor degradation through abnormal cilia formation, leading to arRP or arCRD in the retina. PMID: 27548899
    4. Analysis of patients without C21orf2 mutation indicated genetic heterogeneity of axial SMD. Functional data in chondrocyte suggest C21orf2 is implicated in cartilage differentiation PMID: 26974433
    5. C21ORF2 functions in the same pathway as NEK1 in DNA damage repair. PMID: 26290490
    6. This retinal dystrophy phenotype is caused by recessive mutations in C21orf2 and can be considered a retinal ciliopathy as C21orf2 encodes a protein that localises to photoreceptor ciliary structures. PMID: 26294103
    7. Downregulated protein level of C21orf2 in adult brain of patients with Down syndrome (DS) in contrast to Alzheimer's disease indicates that it can be considered specific for changes in DS. PMID: 15068244

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  • 相关疾病：
    Retinal dystrophy with or without macular staphyloma (RDMS); Spondylometaphyseal dysplasia, axial (SMDAX)
  • 亚细胞定位：
    Mitochondrion. Cytoplasm, cytoskeleton, cilium basal body. Cell projection, cilium, photoreceptor outer segment. Cytoplasm.
  • 组织特异性：
    Widely expressed. Expressed in the retina.
  • 数据库链接：

    HGNC: 1260

    OMIM: 602271

    KEGG: hsa:755

    STRING: 9606.ENSP00000344566

    UniGene: Hs.517331