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LCA5 Antibody, Biotin conjugated

  • 中文名稱：
    LCA5兔多克隆抗體, Biotin偶聯(lián)
  • 貨號：
    CSB-PA769789LD01HU
  • 規(guī)格：
    ￥880
  • 其他：

產(chǎn)品詳情

  • 產(chǎn)品名稱：
    Rabbit anti-Homo sapiens (Human) LCA5 Polyclonal antibody
  • Uniprot No.：
  • 基因名：
    LCA5
  • 別名：
    LCA5 antibody; C6orf152Lebercilin antibody; Leber congenital amaurosis 5 protein antibody
  • 宿主：
    Rabbit
  • 反應(yīng)種屬：
    Human
  • 免疫原：
    Recombinant Human Lebercilin protein (101-400AA)
  • 免疫原種屬：
    Homo sapiens (Human)
  • 標(biāo)記方式：
    Biotin
  • 克隆類型：
    Polyclonal
  • 抗體亞型：
    IgG
  • 純化方式：
    >95%, Protein G purified
  • 濃度：
    It differs from different batches. Please contact us to confirm it.
  • 保存緩沖液：
    Preservative: 0.03% Proclin 300
    Constituents: 50% Glycerol, 0.01M PBS, PH 7.4
  • 產(chǎn)品提供形式：
    Liquid
  • 應(yīng)用范圍：
    ELISA
  • Protocols：
  • 儲存條件：
    Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
  • 貨期：
    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.

產(chǎn)品評價(jià)

靶點(diǎn)詳情

  • 功能：
    Involved in intraflagellar protein (IFT) transport in photoreceptor cilia.
  • 基因功能參考文獻(xiàn)：
    1. The authors report novel biallelic LCA5 mutations, Ala212Pro and Tyr441Cys, as causing cone dystrophy. PMID: 27067258
    2. Identification of novel LCA5 mutations in patients with Leber congenital amaurosis and retinitis pigmentosa. PMID: 23946133
    3. This work reveals a higher frequency of LCA5 mutations in a Spanish Leber congenital amaurosis cohort than in other populations. PMID: 24144451
    4. A novel LCA5 mutation is present in a Pakistani family with Leber congenital amaurosis and cataracts. PMID: 21850168
    5. Macular coloboma-type LCA shows genetic heterogeneity and it is not possible to establish a phenotype-genotype correlation with LCA5 and macular coloboma. PMID: 16082399
    6. The LCA5 gene on chromosome 6q14 encodes the ciliary protein lebercilin associated with Leber congenital amaurosis type 5. PMID: 17546029
    7. Data report the identification of three novel LCA5 mutations (3/3 homozygous) in three families confirming the modest implication of this gene in this series (3/179; 1.7%). PMID: 18000884
    8. This is the second report of LCA5 mutations causing Leber congenital amaurosis. PMID: 18334959
    9. This result shows that mutation in LCA5 is likely to be a rare genetic cause in Koreans PMID: 19172513
    10. Leber congenital amaurosis 2 patients with LCA5 mutation had evidence of retained photoreceptors mainly in the central retina; retinal remodeling was present in pericentral regions PMID: 19503738
    11. OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin PMID: 19800048

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  • 相關(guān)疾?。?/div>
    Leber congenital amaurosis 5 (LCA5)
  • 亞細(xì)胞定位：
    Cytoplasm, cytoskeleton. Cytoplasm, cytoskeleton, cilium axoneme. Cytoplasm, cytoskeleton, cilium basal body. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Cell projection, cilium.
  • 蛋白家族：
    LCA5 family
  • 組織特異性：
    Widely expressed.
  • 數(shù)據(jù)庫鏈接：

    HGNC: 31923

    OMIM: 604537

    KEGG: hsa:167691

    STRING: 9606.ENSP00000358861

    UniGene: Hs.21945