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  4. Recombinant Human X-linked retinitis pigmentosa GTPase regulator-interacting protein 1 (RPGRIP1), partial

Recombinant Human X-linked retinitis pigmentosa GTPase regulator-interacting protein 1 (RPGRIP1), partial

  • 中文名稱：
    人RPGRIP1重組蛋白
  • 貨號(hào)：
    CSB-YP850326HU
  • 規(guī)格：
  • 來(lái)源：
    Yeast
  • 其他：
  • 中文名稱：
    人RPGRIP1重組蛋白
  • 貨號(hào)：
    CSB-EP850326HU
  • 規(guī)格：
  • 來(lái)源：
    E.coli
  • 其他：
  • 中文名稱：
    人RPGRIP1重組蛋白
  • 貨號(hào)：
    CSB-EP850326HU-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：
    人RPGRIP1重組蛋白
  • 貨號(hào)：
    CSB-BP850326HU
  • 規(guī)格：
  • 來(lái)源：
    Baculovirus
  • 其他：
  • 中文名稱：
    人RPGRIP1重組蛋白
  • 貨號(hào)：
    CSB-MP850326HU
  • 規(guī)格：
  • 來(lái)源：
    Mammalian cell
  • 其他：

產(chǎn)品詳情

  • 純度：
    >85% (SDS-PAGE)
  • 基因名：
    RPGRIP1
  • Uniprot No.：
  • 別名：
    RPGRIP1; X-linked retinitis pigmentosa GTPase regulator-interacting protein 1; RPGR-interacting 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：
    May function as scaffolding protein. Required for normal location of RPGR at the connecting cilium of photoreceptor cells. Required for normal disk morphogenesis and disk organization in the outer segment of photoreceptor cells and for survival of photoreceptor cells.
  • 基因功能參考文獻(xiàn)：
    1. Gene capture sequencing results found three probands carrying mutations of RPGRIP1, which was known to be associated with pathogenesis of LCA (Leber's congenital amaurosis). By further clinical analysis, two probands were confirmed to be retinitis pigmentosa (RP) patients and one was confirmed to be LCA patient. These novel mutations were co-segregated with the disease phenotype in their families. PMID: 28456785
    2. Neurodevelopmental delay and brain atrophy in the CT scan were reported. Genomic sequencing identified a novel homozygous deletion, c.[420delG], in RPGRIP1. This mutation was not detected in 80 ethnically matched controls and has not been reported elsewhere. CONCLUSIONS: Identifying new mutations in Leber congenital amaurosis-related genes and their clinical manifestations can improve our understanding of the disease and. PMID: 27116508
    3. RPGRIP1 has an essential role in the photoreceptor connecting cilia, and photoreceptors lacking RPGRIP1 are unable to maintain the light sensing outer segments. [review] PMID: 25414380
    4. Although the present patients did not show sufficient clinical findings as Leber congenital amaurosis (LCA), PCR findings and direct sequencing following microarray analysis confirmed that they were LCA. PMID: 25096270
    5. Neurodevelopmental delay is a potential feature of strictly defined LCA, documented in our series for some children with homozygous RPGRIP1 and GUCY2D mutations. PMID: 24997176
    6. We report a novel RPGRIP1 mutation causing LCA in a consanguineous Emirati family. To the best of our knowledge, this alteration has not been described in the literature so far. PMID: 23278760
    7. Recessive RPGRIP1 mutations cause a severe cone-rod Leber congenital amaurosis phenotype, often with poor or no fixation and an oculodigital sign. In the first decade of life retinal changes are clinically most evident in the periphery. PMID: 23505306
    8. RPGRIP1 in human and in canine model involves protein network and photoreceptor cilia. PMID: 22183349
    9. Nek4 interaction with both RPGRIP1 and the RPGRIP1L is involved in cilium assembly. PMID: 21685204
    10. heterozygous non-synonymous variants of RPGRIP1 may cause or increase the susceptibility to various forms of glaucoma PMID: 21224891
    11. Studies highlight the recent developments in understanding the mechanism of cilia-dependent photoreceptor degeneration due to mutations in RPGR and PGR-interacting proteins in severe genetic diseases. PMID: 20090203
    12. RPGR and RPGRIP isoforms are distributed and co-localized at restricted foci throughout the outer segments of human and bovine, but not mice rod photoreceptors. PMID: 12140192
    13. RPGR ORF15 isoform co-localizes with RPGRIP1 at cenrioles and basal bodies and interacts with nucleophosmin. PMID: 15772089
    14. RPGRIP1-mediated nucleocytoplasmic crosstalk emerges with implications in the molecular pathogenesis of retinopathies PMID: 15800011
    15. AIPL1, CRB1, GUCY2D, RPE65, and RPGRIP1 mutations may have roles in juvenile retinitis pigmentosa PMID: 16272259
    16. RPGRIP1 and nephrocystin-4 interact strongly in vitro and in vivo, and that they colocalize in the retina PMID: 16339905
    17. The RPGRIP1-Lebers congenital amaurosis patient has treatment potential for a gene replacement strategy if targeted to central, but not pericentral or peripheral, retina. PMID: 17306875

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  • 相關(guān)疾病：
    Leber congenital amaurosis 6 (LCA6); Cone-rod dystrophy 13 (CORD13)
  • 亞細(xì)胞定位：
    Cell projection, cilium.
  • 蛋白家族：
    RPGRIP1 family
  • 組織特異性：
    Strong expression in retina, with weaker expression in testis. Expressed in other neurons such as amacrine cells. Colocalizes with RGPR in the outer segment of rod photoreceptors and cone outer segments.
  • 數(shù)據(jù)庫(kù)鏈接：

    HGNC: 13436

    OMIM: 605446

    KEGG: hsa:57096

    STRING: 9606.ENSP00000382895

    UniGene: Hs.126035



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