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  4. Recombinant Human Lipoxygenase homology domain-containing protein 1 (LOXHD1), partial

Recombinant Human Lipoxygenase homology domain-containing protein 1 (LOXHD1), partial

  • 中文名稱(chēng)：
    人LOXHD1重組蛋白
  • 貨號(hào)：
    CSB-YP814211HU
  • 規(guī)格：
  • 來(lái)源：
    Yeast
  • 其他：
  • 中文名稱(chēng)：
    人LOXHD1重組蛋白
  • 貨號(hào)：
    CSB-EP814211HU
  • 規(guī)格：
  • 來(lái)源：
    E.coli
  • 其他：
  • 中文名稱(chēng)：
    人LOXHD1重組蛋白
  • 貨號(hào)：
    CSB-EP814211HU-B
  • 規(guī)格：
  • 來(lái)源：
    E.coli
  • 共軛：
    Avi-tag Biotinylated

    E. coli biotin ligase (BirA) is highly specific in covalently attaching biotin to the 15 amino acid AviTag peptide. This recombinant protein was biotinylated in vivo by AviTag-BirA technology, which method is BriA catalyzes amide linkage between the biotin and the specific lysine of the AviTag.

  • 其他：
  • 中文名稱(chēng)：
    人LOXHD1重組蛋白
  • 貨號(hào)：
    CSB-BP814211HU
  • 規(guī)格：
  • 來(lái)源：
    Baculovirus
  • 其他：
  • 中文名稱(chēng)：
    人LOXHD1重組蛋白
  • 貨號(hào)：
    CSB-MP814211HU
  • 規(guī)格：
  • 來(lái)源：
    Mammalian cell
  • 其他：

產(chǎn)品詳情

  • 純度：
    >85% (SDS-PAGE)
  • 基因名：
    LOXHD1
  • Uniprot No.：
  • 別名：
    LOXHD1; Lipoxygenase homology domain-containing protein 1
  • 種屬：
    Homo sapiens (Human)
  • 蛋白長(zhǎng)度：
    Partial
  • 蛋白標(biāo)簽：
    Tag?type?will?be?determined?during?the?manufacturing?process.
    The tag type will be determined during production process. If you have specified tag type, please tell us and we will develop the specified tag preferentially.
  • 產(chǎn)品提供形式：
    Lyophilized powder
    Note: We will preferentially ship the format that we have in stock, however, if you have any special requirement for the format, please remark your requirement when placing the order, we will prepare according to your demand.
  • 復(fù)溶：
    We recommend that this vial be briefly centrifuged prior to opening to bring the contents to the bottom. Please reconstitute protein in deionized sterile water to a concentration of 0.1-1.0 mg/mL.We recommend to add 5-50% of glycerol (final concentration) and aliquot for long-term storage at -20℃/-80℃. Our default final concentration of glycerol is 50%. Customers could use it as reference.
  • 儲(chǔ)存條件：
    Store at -20°C/-80°C upon receipt, aliquoting is necessary for mutiple use. Avoid repeated freeze-thaw cycles.
  • 保質(zhì)期：
    The shelf life is related to many factors, storage state, buffer ingredients, storage temperature and the stability of the protein itself.
    Generally, the shelf life of liquid form is 6 months at -20°C/-80°C. The shelf life of lyophilized form is 12 months at -20°C/-80°C.
  • 貨期：
    Delivery time may differ from different purchasing way or location, please kindly consult your local distributors for specific delivery time.
    Note: All of our proteins are default shipped with normal blue ice packs, if you request to ship with dry ice, please communicate with us in advance and extra fees will be charged.
  • 注意事項(xiàng)：
    Repeated freezing and thawing is not recommended. Store working aliquots at 4°C for up to one week.
  • Datasheet ：
    Please contact us to get it.

產(chǎn)品評(píng)價(jià)

靶點(diǎn)詳情

  • 功能：
    Involved in hearing. Required for normal function of hair cells in the inner ear.
  • 基因功能參考文獻(xiàn)：
    1. We report a Japanese family carrying compound heterozygotes of truncating and nontruncating mutations in LOXHD1 identified by targeted NGS analysis. The fact of lower degree of hearing impairment in our cases than previously reported and the molecular modeling of the missense mutant provide insight to the genotype-phenotype correlation of DFNB77. PMID: 26973026
    2. Mutations in LOXHD1 are identified in a Japanese population with sensorineural hearing loss. PMID: 25792669
    3. Authors identified a missense change in LOXHD1. Data implicate rare alleles in LOXHD1 in the pathogenesis of FCD and highlight how different mutations in the same locus can potentially produce diverse phenotypes. PMID: 22341973
    4. This is the second reported mutation in the LOXHD1 gene, and its homozygous presence in two of 39 Ashkenazi Jewish families with congenital ARNSHL suggest that it could account for some 5% of the familial cases in this community PMID: 21465660
    5. A founder mutation R1572X in the LOXHD1 causes autosomal recessive hearing loss in Ashkenazi Jews PMID: 21465660
    6. A mutation in LOXHD1, which causes DFNB77, a progressive form of autosomal-recessive nonsyndromic hearing loss (ARNSHL), was identified. PMID: 19732867

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  • 相關(guān)疾?。?/div>
    Deafness, autosomal recessive, 77 (DFNB77)
  • 亞細(xì)胞定位：
    Cell projection, stereocilium.
  • 數(shù)據(jù)庫(kù)鏈接：

    HGNC: 26521

    OMIM: 613072

    KEGG: hsa:125336

    STRING: 9606.ENSP00000300591

    UniGene: Hs.345877