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

IQCB1 Antibody, FITC conjugated

  • 中文名稱:
    IQCB1兔多克隆抗體, FITC偶聯
  • 貨號:
    CSB-PA621862LC01HU
  • 規格:
    ¥880
  • 其他:

產品詳情

  • 產品名稱:
    Rabbit anti-Homo sapiens (Human) IQCB1 Polyclonal antibody
  • Uniprot No.:
  • 基因名:
    IQCB1
  • 別名:
    IQ calmodulin-binding motif containing 1 antibody; IQ calmodulin-binding motif-containing protein 1 antibody; IQ motif containing B1 antibody; Iqcb1 antibody; IQCB1_HUMAN antibody; KIAA0036 antibody; Nephrocystin-5 antibody; NPHP5 antibody; p53 and DNA damage-regulated IQ motif protein antibody; SLSN5 antibody
  • 宿主:
    Rabbit
  • 反應種屬:
    Human
  • 免疫原:
    Recombinant Human IQ calmodulin-binding motif-containing protein 1 protein (445-598AA)
  • 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:
    Involved in ciliogenesis. The function in an early step in cilia formation depends on its association with CEP290/NPHP6. Involved in regulation of the BBSome complex integrity, specifically for presence of BBS2 and BBS5 in the complex, and in ciliary targeting of selected BBSome cargos. May play a role in controlling entry of the BBSome complex to cilia possibly implicating CEP290/NPHP6.
  • 基因功能參考文獻:
    1. Study demonstrates the interaction between CNNM4 and IQCB1, which provides the first link between CNNM4 and IQCB1 that causes Leber congenital amaurosis and retinal dystrophy when mutated, providing important insights into the molecular pathogenic mechanisms of retinal dystrophy in Jalili syndrome. PMID: 29322253
    2. that nephrocystin-5 is essential for photoreceptor outer segment formation PMID: 27328943
    3. Dynamic ubiquitination and deubiquitination of NPHP5 plays a crucial role in the regulation of ciliogenesis. NPHP5 directly binds to a deubiquitinating enzyme USP9X/FAM and two E3 ubiquitin ligases BBS11/TRIM32 and MARCH7/axotrophin. PMID: 28498859
    4. NPHP5-mutant dogs recapitulate the human phenotype of very early loss of rods, and relative retention of the central retinal cone photoreceptors that lack function. PMID: 27506978
    5. NPHP5 and Cep290 regulate BBSome integrity, ciliary trafficking and cargo delivery. PMID: 25552655
    6. High-throughput mutation analysis identified a homozygous truncating mutation (c.1504C>T, p.R502*) in the NPHP5 in 5 families in Iranian children with nephronophthisis. PMID: 25851290
    7. mutation is predicted to introduce a new open reading frame that results in the truncation of the C-terminal 235 amino acids of nephrocystin-5 and its consequent loss of function PMID: 24674142
    8. NPHP5 mutations impair protein interaction with Cep290 and localize to centrosomes, thereby compromising cilia formation. PMID: 23446637
    9. Genetic variation may affect severity of disease for X-linked retinitis pigmentosa. PMID: 22183348
    10. Data show that the minor allele (N) of I393N in IQCB1 and the common allele (R) of R744Q in RPGRIP1L were associated with severe disease in XlRP with RPGR mutations. PMID: 21857984
    11. Cone photoreceptors are the main targets for gene therapy of NPHP5 (IQCB1) or NPHP6 (CEP290) blindness: generation of an all-cone Nphp6 hypomorph mouse that mimics the human retinal ciliopathy. PMID: 21245082
    12. Results show that the onset of renal failure in patients with IQCB1 mutations is highly variable, and that mutations are also found in Leber congenital amaurosis (LCA) patients without nephronophthisis, rendering IQCB1 a new gene for LCA. PMID: 20881296
    13. Mutations in NPHP5 can cause Leber congenital amaurosis (LCA)without early-onset renal disease. PMID: 21220633
    14. nephrocystin-5, RPGR and calmodulin can be coimmunoprecipitated from retinal extracts, and that these proteins localize to connecting cilia of photoreceptors and to primary cilia of renal epithelial cells PMID: 15723066

    顯示更多

    收起更多

  • 相關疾病:
    Senior-Loken syndrome 5 (SLSN5); Leber congenital amaurosis 10 (LCA10)
  • 亞細胞定位:
    Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole. Note=Localization to the centrosome depends on the interaction with CEP290/NPHP6.
  • 組織特異性:
    Ubiquitously expressed in fetal and adult tissues. Localized to the outer segments and connecting cilia of photoreceptor cells. Up-regulated in a number of primary colorectal and gastric tumors.
  • 數據庫鏈接:

    HGNC: 28949

    OMIM: 609237

    KEGG: hsa:9657

    STRING: 9606.ENSP00000311505

    UniGene: Hs.604110



主站蜘蛛池模板: 在线视频网站www色| 日日噜噜夜夜狠狠久久丁香五月| 中文午夜乱理片无码| 女性自慰网站免费观看w| 亚洲乱码在线卡一卡二卡新区| 狠狠躁天天躁夜夜躁婷婷| 国产后入清纯学生妹| 少妇夜夜春夜夜爽试看视频| 亚洲人成电影在线天堂色| 大胆欧美熟妇xxbbwwbw高潮了| 亚洲精品久久久久中文字幕m男| 性按摩玩人妻hd中文字幕| 亚洲欧美精品伊人久久| 亚洲欧洲自拍拍偷精品 美利坚| 国产精品毛片更新无码| 国产成人免费一区二区三区| 欧美日韩国产免费一区二区三区| 真实国产乱子伦精品一区二区三区 | 国产精品无码无需播放器| 婷婷五月日韩av永久免费| 亚洲国产欧美中文丝袜日韩| 中文亚洲欧美日韩无线码| 国产95在线 | 欧美| 日本黄漫动漫在线观看视频| 男女啪啪免费体验区| 国产成人精品午夜福利| 亚洲成色综合网站在线| 正在播放国产剧情亂倫| 亚洲国产欧洲综合997久久| 无码精品久久一区二区三区| 天堂va欧美ⅴa亚洲va在线| 人妻丰满熟妇岳av无码区hd| 国产精品成人无码久久久| 97性无码区免费| 国产精品乱码久久久久软件| 国产成人精品三级麻豆| 欧美xxxx黑人又粗又长精品| 国产卡二卡三卡四卡免费网址| 久久精品国产99国产精2021| 国产成人欧美综合在线影院| 1000部夫妻午夜免费|