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  4. RAB40AL Antibody, FITC conjugated

RAB40AL Antibody, FITC conjugated

  • 中文名稱(chēng)：
    RAB40AL兔多克隆抗體, FITC偶聯(lián)
  • 貨號(hào)：
    CSB-PA019203LC01HU
  • 規(guī)格：
    ￥880
  • 其他：

產(chǎn)品詳情

  • 產(chǎn)品名稱(chēng)：
    Rabbit anti-Homo sapiens (Human) RAB40AL Polyclonal antibody
  • Uniprot No.：
  • 基因名：
    RAB40AL
  • 別名：
    RAB40AL antibody; RLGP antibody; Ras-related protein Rab-40A-like antibody; Ras-like GTPase antibody
  • 宿主：
    Rabbit
  • 反應(yīng)種屬：
    Human
  • 免疫原：
    Recombinant Human Ras-related protein Rab-40A-like protein (1-88AA)
  • 免疫原種屬：
    Homo sapiens (Human)
  • 標(biāo)記方式：
    FITC
  • 克隆類(lèi)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
  • 儲(chǔ)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(píng)價(jià)

靶點(diǎn)詳情

  • 功能：
    May be a substrate-recognition component of a SCF-like ECS (Elongin-Cullin-SOCS-box protein) E3 ubiquitin ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins.
  • 基因功能參考文獻(xiàn)：
    1. Our findings are inconsistent with a causative effect of RAB40AL p.D59G on cognitive impairment combined with severe to profound bilateral hearing loss but indicate that p.D59G is a common genetic variation. PMID: 25370018
    2. Data question the role of RAB40AL mutation as a disease-causing change and the involvement of RAB40AL in Martin-Probst syndrome. PMID: 25044830
    3. We herein present an unrelated 20-year-old male with similar manifestations also with p.D59G in the RAB40AL gene, which supports the existence of this condition previously coined as Martin-Probst syndrome PMID: 24863632
    4. This is the first study to show that mutation of RAB40AL is associated with a human disorder. PMID: 22581972
  • 相關(guān)疾病：
    Mental retardation, X-linked, syndromic, Martin-Probst type (MRXSMP)
  • 亞細(xì)胞定位：
    Membrane; Lipid-anchor; Cytoplasmic side. Cytoplasm. Mitochondrion.
  • 蛋白家族：
    Small GTPase superfamily, Rab family
  • 組織特異性：
    Expressed in brain, lung, heart, skeletal muscle, kidney and liver. Highest expression in brain. Expressed in fetal brain and kidney.
  • 數(shù)據(jù)庫(kù)鏈接：

    HGNC: 25410

    OMIM: 300405

    KEGG: hsa:282808

    STRING: 9606.ENSP00000218249

    UniGene: Hs.449517



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