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  4. CABP4 Antibody, Biotin conjugated

CABP4 Antibody, Biotin conjugated

  • 中文名稱：
    CABP4兔多克隆抗體, Biotin偶聯(lián)
  • 貨號：
    CSB-PA004390LD01HU
  • 規(guī)格：
    ￥880
  • 其他：

產(chǎn)品詳情

  • 產(chǎn)品名稱：
    Rabbit anti-Homo sapiens (Human) CABP4 Polyclonal antibody
  • Uniprot No.：
  • 基因名：
    CABP4
  • 別名：
    CABP4 antibody; Calcium-binding protein 4 antibody; CaBP4 antibody
  • 宿主：
    Rabbit
  • 反應(yīng)種屬：
    Human
  • 免疫原：
    Recombinant Human Calcium-binding protein 4 protein (1-107AA)
  • 免疫原種屬：
    Homo sapiens (Human)
  • 標記方式：
    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.
  • 用途：
    For Research Use Only. Not for use in diagnostic or therapeutic procedures.

產(chǎn)品評價

靶點詳情

  • 功能：
    Involved in normal synaptic function through regulation of Ca(2+) influx and neurotransmitter release in photoreceptor synaptic terminals and in auditory transmission. Modulator of CACNA1D and CACNA1F, suppressing the calcium-dependent inactivation and shifting the activation range to more hyperpolarized voltages.
  • 基因功能參考文獻：
    1. CABP4-related retinal disease is a cone-rod system disorder with possible foveal abnormalities. PMID: 29525873
    2. Foveal thinning is a feature of CABP4 retinopathy. Normal autofluorescence is consistent with inner retinal dysfunction and suggests the condition could be amenable to gene therapy. Retinal dysfunction was stable throughout follow-up. PMID: 28635425
    3. In this study, a novel compound heterozygous mutation, c.[1A>G]; [608G>T] (p.[0?]; p.[W203L]), was identified in the LRIT3 gene of a proband. No mutations were identified in the CABP4 or GPR179 gene. PMID: 27428514
    4. Twenty-nine CACNA1F variations were detected among 34 families in the total cohort, and a novel CABP4 variation was identified in one family. PMID: 28002560
    5. we found a homozygous compound mutation in the CABP4 gene in 3 patients with congenital stationary night blindess 2. PMID: 23714322
    6. Complex regulation of voltage-dependent activation and inactivation properties of retinal voltage-gated Cav1.4 L-type Ca2+ channels by Ca2+-binding protein 4 (CaBP4). PMID: 22936811
    7. This report significantly expands on the phenotype associated with calcium binding protein 4 mutations. PMID: 20157620
    8. it is reported for the first time that mutations in CABP4 lead to autosomal recessive congenital stationary night blindness PMID: 16960802
    9. A novel homozygous nonsense mutation in CABP4 in two siblings resulted in a phenotype with severely reduced cone function and only negligibly reduced rod function on electroretinography and psychophysical testing. PMID: 19074807

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  • 相關(guān)疾?。?/div>
    Cone-rod synaptic disorder, congenital non-progressive (CRSD)
  • 亞細胞定位：
    Cytoplasm. Cell junction, synapse, presynapse.
  • 組織特異性：
    Expressed in retina and in the inner hair cells (IHC) of the cochlea.
  • 數(shù)據(jù)庫鏈接：

    HGNC: 1386

    OMIM: 608965

    KEGG: hsa:57010

    STRING: 9606.ENSP00000324960

    UniGene: Hs.143036