在线日韩日本国产亚洲丨少妇伦子伦情品无吗丨欧美性猛交xxxx免费看蜜桃丨精品人妻系列无码一区二区三区丨亚洲精品无码不卡在线播放

Your Good Partner in Biology Research

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

    顯示更多

    收起更多

  • 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



主站蜘蛛池模板: 亚洲精品一区二区三区婷婷月| 中文字幕日韩人妻在线视频| 玩弄中年熟妇正在播放| 中文字日产幕乱五区| 婷婷五月综合丁香在线| 天堂av无码大芭蕉伊人av不卡| 欧美日韩无砖专区一中文字| 大又大又粗又硬又爽少妇毛片| 国产精品高清一区二区三区 | 无遮无挡三级动态图| 欧美精品成人v高清视频| 成人无码视频免费播放| 国产伦孑沙发午休精品| 四房播播开心五月| 伊人色综合久久天天网| 精品国产日韩亚洲一区| 免费欧洲美女牲交视频| 西西人体做爰大胆gogo| 久天啪天天久久99久久 | 无码潮喷a片无码高潮视频| 成年女性特黄午夜视频免费看| 五十路熟妇亲子交尾| 国产又粗又黄又爽的大片| 久久精品第九区免费观看| 在线a亚洲视频播放在线观看| 国产后进白嫩翘臀在线播放| 97成人精品区在线播放| 在线精品自偷自拍无码| 中文字幕日韩精品一区二区三区 | 天堂√在线中文最新版| 丰满人妻中伦妇伦精品app| 熟女少妇精品一区二区| 狠狠色噜噜狠狠狠7777米奇| 午夜嘿嘿嘿影院| 久久亚洲春色中文字幕久久久 | 中文乱码免费一区二区 | 18禁黄网站禁片免费观看不卡| 国产成人av在线一区二区三区| 无套中出丰满人妻无码| 真人祼交二十三式视频| 99视频精品全部免费免费观看|