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-PA014599GA01HU
  • 規格:
    ¥3,900
  • 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,Mouse,Rat
  • 免疫原:
    Human BBS6
  • 免疫原種屬:
    Homo sapiens (Human)
  • 抗體亞型:
    IgG
  • 純化方式:
    Antigen Affinity Purified
  • 濃度:
    It differs from different batches. Please contact us to confirm it.
  • 保存緩沖液:
    PBS with 0.02% Sodium Azide, 50% Glycerol, pH 7.3. -20°C, Avoid freeze / thaw cycles.
  • 產品提供形式:
    Liquid
  • 應用范圍:
    ELISA,WB
  • 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: 欧美一性一乱一交一视频| 亚洲精品久久久久久中文| 色www视频永久免费| 蜜桃无码一区二区三区| 亚洲性人人天天夜夜摸| 西西艺术人像摄影| 在线观看成人无码中文av天堂| 乱妇乱女熟妇熟女网站| 成人亚洲精品久久久久| 亚洲精品久久国产精品浴池| 免费看男女做羞羞的事网站| 曰韩内射六十七十老熟女影视| 夜夜爱夜夜做夜夜爽| 人人澡人人曰人人摸看| 国产亚洲曝欧美不卡精品| 巨爆乳中文字幕爆乳区| 亚洲精品专区在线观看| 国产成人亚洲综合无码品善网| 日韩一区精品视频一区二区| 在线播放亚洲第一字幕| 精品玖玖玖视频在线观看| 亚洲欧洲综合有码无码| 大肉大捧一进一出好爽视色大师 | 免费1级做爰片在线观看爱| 午夜天堂av天堂久久久| 久久亚洲精品中文字幕| 亚洲精品av一二三区无码| 99精品视频在线观看免费蜜桃| a片免费视频在线观看| 69久久国产露脸精品国产| 婷婷激情综合色五月久久竹菊影视| 蜜臀av性久久久久蜜臀aⅴ麻豆| 欧美性xxxx狂欢老少配| 中国农村妇女真实bbwbbwbbw| 免费一区二区无码东京热| 国产午夜精品一区理论片飘花 | 蜜桃网站入口在线进入| 中文午夜乱理片无码| 亚洲精品aa片在线观看国产| 轻点好疼好大好爽视频| 97碰碰碰免费公开在线视频|