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  4. Recombinant Human Uncharacterized protein C2orf71 (C2orf71), partial

Recombinant Human Uncharacterized protein C2orf71 (C2orf71), partial

  • 中文名稱：
    Recombinant Human Uncharacterized protein C2orf71(C2orf71) ,partial
  • 貨號：
    CSB-YP003872HU
  • 規格：
  • 來源：
    Yeast
  • 其他：
  • 中文名稱：
    Recombinant Human Uncharacterized protein C2orf71(C2orf71) ,partial
  • 貨號：
    CSB-EP003872HU
  • 規格：
  • 來源：
    E.coli
  • 其他：
  • 中文名稱：
    Recombinant Human Uncharacterized protein C2orf71(C2orf71) ,partial
  • 貨號：
    CSB-EP003872HU-B
  • 規格：
  • 來源：
    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：
    Recombinant Human Uncharacterized protein C2orf71(C2orf71) ,partial
  • 貨號：
    CSB-BP003872HU
  • 規格：
  • 來源：
    Baculovirus
  • 其他：
  • 中文名稱：
    Recombinant Human Uncharacterized protein C2orf71(C2orf71) ,partial
  • 貨號：
    CSB-MP003872HU
  • 規格：
  • 來源：
    Mammalian cell
  • 其他：

產品詳情

  • 純度：
    >85% (SDS-PAGE)
  • 基因名：
    C2orf71
  • Uniprot No.：
  • 別名：
    PCARE; C2orf71; Photoreceptor cilium actin regulator
  • 種屬：
    Homo sapiens (Human)
  • 蛋白長度：
    Partial
  • 蛋白標簽：
    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.
  • 儲存條件：
    Store at -20°C/-80°C upon receipt, aliquoting is necessary for mutiple use. Avoid repeated freeze-thaw cycles.
  • 保質期：
    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：
    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.

產品評價

靶點詳情

  • 功能：
    Plays an essential role for normal photoreceptor cell maintenance and vision.
  • 基因功能參考文獻：
    1. We propose that the combination of heterozygous loss-of-function mutations in these genes drives syndromic retinal dystrophy, likely through the genetic interaction of at least two loci. PMID: 27029556
    2. On the basis of our multicenter analysis, C2orf71 might represent a more frequently mutated gene in autosomal recessive retinitis pigmentosa in some populations. PMID: 28763557
    3. A homozygous nonsense CEP250 mutation, in combination with a heterozygous C2orf71 nonsense mutation, causes an atypical form of Usher syndrome, characterised by early-onset sensorineural hearing loss and a relatively mild retinitis pigmentosa. PMID: 24780881
    4. Novel C2orf71 mutations account for approximately 1% of cases in a large French arRP cohort. PMID: 21412943
    5. C2ORF71 is a highly polymorphic gene (average heterozygosity of coding region in controls: 2.118 x 10(-3)) with many rare variants that confound mutation detection. PMID: 20811058
    6. Observational study of gene-disease association. (HuGE Navigator) PMID: 20811058
    7. Mutations in C2orf71 cause autosomal-recessive retinitis pigmentosa. PMID: 20398884
    8. Discovery and functional analysis of a retinitis pigmentosa gene, C2orf71, are reported. PMID: 20398886

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  • 相關疾病：
    Retinitis pigmentosa 54 (RP54)
  • 亞細胞定位：
    Cell projection, cilium, photoreceptor outer segment. Photoreceptor inner segment.
  • 組織特異性：
    Specifically expressed in retina.
  • 數據庫鏈接：

    HGNC: 34383

    OMIM: 613425

    KEGG: hsa:388939

    STRING: 9606.ENSP00000332809

    UniGene: Hs.354243



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