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  4. LHFPL5 Antibody, FITC conjugated

LHFPL5 Antibody, FITC conjugated

  • 中文名稱：
    LHFPL5兔多克隆抗體, FITC偶聯
  • 貨號：
    CSB-PA844703LC01HU
  • 規格：
    ￥880
  • 其他：

產品詳情

  • 產品名稱：
    Rabbit anti-Homo sapiens (Human) LHFPL5 Polyclonal antibody
  • Uniprot No.：
  • 基因名：
    LHFPL5
  • 別名：
    LHFPL5; TMHS; LHFPL tetraspan subfamily member 5 protein; Lipoma HMGIC fusion partner-like 5 protein; Tetraspan membrane protein of hair cell stereocilia
  • 宿主：
    Rabbit
  • 反應種屬：
    Human
  • 免疫原：
    Recombinant Human LHFPL tetraspan subfamily member 5 protein (46-99AA)
  • 免疫原種屬：
    Homo sapiens (Human)
  • 標記方式：
    FITC
  • 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
  • 產品提供形式：
    Liquid
  • 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.

產品評價

靶點詳情

  • 功能：
    In the inner ear, may be a component of the hair cell's mechanotransduction machinery that functionally couples PCDH15 to the transduction channel. Regulates transducer channel conductance and is required for fast channel adaptation.
  • 基因功能參考文獻：
    1. two novel variants in LHFPL5, including a unique 3'-UTR splice site variant that is predicted to impact pre-mRNA splicing and regulation through an extended 3'-UTR. PMID: 30177809
    2. These findings provide a novel function of LHFPL2 and a novel genetic basis for distal reproductive tract development; they also emphasize the importance of an additional merging phase for proper reproductive tract development. PMID: 26964900
    3. LHFPL5 mutation is associated with dysequilibrium syndrome type 2 and sensorineural hearing loss. PMID: 26437881
    4. Five microsatellites in the 6p21.31e22.3 region and screening of the LHFPL5 gene by DNA heteroduplex analysis revealed a novel mutation (c.89dup) in one out of 129 unrelated Tunisian families with autosomal recessive nonsyndromic hearing loss. PMID: 21816241
    5. These findings establish the importance of TMHS for normal sound transduction in humans. PMID: 16459341
    6. Flies with mutations affecting the diaphanous,forked, and CG12026/TMHS genes displayed significant reductions in the amplitude of sound-evoked potentials compared to wild-type flies PMID: 19102128
    7. The authors present an overview of the LHFP gene family in mouse and humans PMID: 15905332

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  • 相關疾病：
    Deafness, autosomal recessive, 67 (DFNB67)
  • 亞細胞定位：
    Cell membrane; Multi-pass membrane protein.
  • 蛋白家族：
    LHFP family
  • 數據庫鏈接：

    HGNC: 21253

    OMIM: 609427

    KEGG: hsa:222662

    STRING: 9606.ENSP00000353346

    UniGene: Hs.367947



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