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: 国产精品高潮呻吟av久久男男| 午夜三级a三级三点窝| 中文字幕无线码| 久99久热只有精品国产女同 | 中字幕视频在线永久在线| 狠狠做久久深爱婷婷| 人妻熟女一区二区aⅴ清水理纱 | 国产精品久久久久久吹潮| 国产精品久久久久秋霞鲁丝| 精品999日本久久久影院| 国产真实伦在线观看| www国产精品内射老师| 亚洲欧美日韩成人综合网| 国产美女视频国产视视频| 国产女人乱人伦精品一区二区| 中国女人内谢69xxxxxa片| 揉捏奶头高潮呻吟视频| 国产沙发午睡系列999| 亚洲色中文字幕在线播放| 丰满人妻熟妇乱又仑精品| 国产成人无码www免费视频播放 | 一本大道久久东京热av| 日韩欧美激情兽交| 亚洲国产成人久久综合区| 日本sm/羞辱/调教/捆绑视频| 人体内射精一区二区三区| 亚洲の无码国产の无码步美| 熟妇女人妻丰满少妇中文字幕| 国产成人综合色视频精品| 久久久国产精品无码一区二区| 国产欧美一区二区三区免费视频| 久久精品国产99国产精品导航 | 97精品久久久久中文字幕| 国内精品美女视频免费直播| 护士张开腿被奷日出白浆| 欧美亚洲日本高清不卡| 精品无码三级在线观看视频| 国产精品制服| 国产精品成人一区二区不卡| 极品少妇高潮到爽| 国产激情久久久久影院老熟女|