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

MKKS Antibody

  • 中文名稱:
    MKKS兔多克隆抗體
  • 貨號:
    CSB-PA569334
  • 規格:
    ¥1100
  • 圖片:
    • The image on the left is immunohistochemistry of paraffin-embedded Human colon cancer tissue using CSB-PA569334(MKKS Antibody) at dilution 1/50, on the right is treated with fusion protein. (Original magnification: ×200)
    • The image on the left is immunohistochemistry of paraffin-embedded Human brain tissue using CSB-PA569334(MKKS Antibody) at dilution 1/50, on the right is treated with fusion protein. (Original magnification: ×200)
  • 其他:

產品詳情

  • Uniprot No.:
  • 基因名:
    MKKS
  • 別名:
    Bardet Biedl syndrome 6 protein antibody; Bardet-Biedl syndrome 6 protein antibody; BBS6 antibody; HMCS antibody; KMS antibody; McKusick Kaufman syndrome antibody; McKusick Kaufman/Bardet Biedl syndromes putative chaperonin antibody; McKusick-Kaufman/Bardet-Biedl syndromes putative chaperonin antibody; Mkks antibody; MKKS_HUMAN antibody; MKS antibody
  • 宿主:
    Rabbit
  • 反應種屬:
    Human
  • 免疫原:
    Fusion protein of Human MKKS
  • 免疫原種屬:
    Homo sapiens (Human)
  • 標記方式:
    Non-conjugated
  • 抗體亞型:
    IgG
  • 純化方式:
    Antigen affinity purification
  • 濃度:
    It differs from different batches. Please contact us to confirm it.
  • 保存緩沖液:
    -20°C, pH7.4 PBS, 0.05% NaN3, 40% Glycerol
  • 產品提供形式:
    Liquid
  • 應用范圍:
    ELISA,IHC
  • 推薦稀釋比:
    Application Recommended Dilution
    ELISA 1:2000-1:5000
    IHC 1:50-1:200
  • Protocols:
  • 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:
    Probable molecular chaperone that assists the folding of proteins upon ATP hydrolysis. Plays a role in the assembly of BBSome, a complex involved in ciliogenesis regulating transports vesicles to the cilia. May play a role in protein processing in limb, cardiac and reproductive system development. May play a role in cytokinesis.
  • 基因功能參考文獻:
    1. Two novel mutations and three previously reported variants, identified in the present study, further extend the body of evidence implicating BBS6, BBS7, BBS8, and BBS10 in causing Bardet-Biedl Syndrome. PMID: 28761321
    2. found compound heterozygous variants (c.1192C>T, p.Q398* and c.1175C>T, p.T392M) in MKKS in both the siblings, and these were likely to be pathogenic variants PMID: 28624958
    3. We identified a novel H395R substitution in MKKS/BBS6 that results in a unique phenotype of only retinitis pigmentosa and polydactyly. PMID: 26900326
    4. we report here, for the first time, in Indian population, a novel, different profile of mutations in BBS genes (BBS3, BBS9, BBS10 and BBS2) compared to worldwide (BBS1 and 10) reports. PMID: 24400638
    5. Novel mutation (c.1272+1G>A) in BBS6 found in Tunisian families with Bardet-Biedl syndrome. PMID: 23432027
    6. Findings indicate that Bbs proteins play a central role in the regulation of the actin cytoskeleton and control the cilia length through alteration of RhoA levels. PMID: 23716571
    7. Three uORFs (uMKKS0, uMKKS1 and uMKKS2) are reported, and they can repress the translation of the downstream MKKS ORF. uMKKS1 and uMKKS2 are highly conserved in mammals and they encode two different mitochondrial membrane proteins respectively. PMID: 23671934
    8. Using sequence analysis, the role of BBS6, 10 and 12 was assessed in a Bardet-Biedl syndrome patient population comprising 93 cases from 74 families. PMID: 20472660
    9. genetic variations at MKKS gene influence the risk of metabolic syndrome PMID: 19247371
    10. The presence of three mutant alleles in the BBS family correlates with a more severe Bardet-Biedl phenotype. PMID: 12837689
    11. MKKS/BBS6 is a novel centrosomal component required for cytokinesis PMID: 15731008
    12. These results indicate that the MKKS mutants have an abnormal conformation and that chaperone-dependent degradation mediated by CHIP is a key feature of McKusick-Kaufman syndrome/Bardet-Biedl syndrome diseases. PMID: 18094050
    13. results suggest that genetic variation in the MKKS gene may play a role in the development of obesity and the metabolic syndrome. PMID: 18813213
    14. Unaffected individuals in 2 pedigrees had 2 but not all 3 mutations that affecteds had which suggests that Bardet-Biedle syndrome might not be a single-gene recessive disease but a complex trait requiring three mutant alleles to manifest the phenotype. PMID: 11567139

    顯示更多

    收起更多

  • 相關疾病:
    McKusick-Kaufman syndrome (MKKS); Bardet-Biedl syndrome 6 (BBS6)
  • 亞細胞定位:
    Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Cytoplasm, cytosol. Nucleus. Note=The majority of the protein resides within the pericentriolar material (PCM), a proteinaceous tube surrounding centrioles. During interphase, the protein is confined to the lateral surfaces of the PCM but during mitosis it relocalizes throughout the PCM and is found at the intercellular bridge. The MKSS protein is highly mobile and rapidly shuttles between the cytosol and centrosome.
  • 蛋白家族:
    TCP-1 chaperonin family
  • 組織特異性:
    Widely expressed in adult and fetal tissues.
  • 數據庫鏈接:

    HGNC: 7108

    OMIM: 236700

    KEGG: hsa:8195

    STRING: 9606.ENSP00000246062

    UniGene: Hs.472119



主站蜘蛛池模板: 国产av一区二区三区| 亚洲男人成人性天堂网站| 无码av永久免费专区麻豆| 国产日韩在线时看高清视频| 人人爽人人澡人人高潮| 青草青在线视频在线观看| 久久性色欲av免费精品观看| 激情射精爽到偷偷c视频无码| 国产热の有码热の无码视频| 国产伦精品一区二区三区| 日本国产网曝视频在线观看| 大香网伊人久久综合网2018| 99精品久久精品一区二区| 国产精品久久久久久亚洲影视内衣 | 国产午夜视频在线观看| 狂野av人人澡人人添| 亚洲人成在线观看影院牛大爷| 无码帝国www无码专区色综合 | 特级无码毛片免费视频尤物| 一本久道久久综合久久爱| 国产在线视频主播区| 老鲁夜夜老鲁| 免费无码午夜福利片| 亚洲 卡通 欧美 制服 中文| 亚洲欧美第一成人网站7777| 中文字幕无码免费久久| 中国熟妇牲交视频| 137日本免费肉体摄影| 国模杨依粉嫩蝴蝶150p| 国产乱子伦视频一区二区三区| 久久这里只精品国产免费9| 婷婷色五月开心五月| 性色av无码一区二区三区人妻| 欧美巨大xxxx做受高清| 日本大片免费观看视频| 无码人妻丝袜在线视频| 日产亚洲一区二区三区| 国精品人妻无码一区二区三区性色| 亚洲人ⅴsaⅴ国产精品| 蜜臀av人妻国产精品建身房| 亚洲va综合va国产产va中文|