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  4. Recombinant Human McKusick-Kaufman/Bardet-Biedl syndromes putative chaperonin (MKKS)

Recombinant Human McKusick-Kaufman/Bardet-Biedl syndromes putative chaperonin (MKKS)

  • 中文名称：
    人MKKS重组蛋白
  • 货号：
    CSB-YP878846HU
  • 规格：
  • 来源：
    Yeast
  • 其他：
  • 中文名称：
    人MKKS重组蛋白
  • 货号：
    CSB-EP878846HU
  • 规格：
  • 来源：
    E.coli
  • 其他：
  • 中文名称：
    人MKKS重组蛋白
  • 货号：
    CSB-EP878846HU-B
  • 规格：
  • 来源：
    E.coli
  • 共轭：
    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：
  • 中文名称：
    人MKKS重组蛋白
  • 货号：
    CSB-BP878846HU
  • 规格：
  • 来源：
    Baculovirus
  • 其他：
  • 中文名称：
    人MKKS重组蛋白
  • 货号：
    CSB-MP878846HU
  • 规格：
  • 来源：
    Mammalian cell
  • 其他：

产品详情

  • 纯度：
    >85% (SDS-PAGE)
  • 基因名：
    MKKS
  • Uniprot No.：
  • 别名：
    Bardet Biedl syndrome 6 protein; Bardet-Biedl syndrome 6 protein; BBS6; HMCS; KMS; McKusick Kaufman syndrome; McKusick Kaufman/Bardet Biedl syndromes putative chaperonin; McKusick-Kaufman/Bardet-Biedl syndromes putative chaperonin; Mkks; MKKS_HUMAN; MKS
  • 种属：
    Homo sapiens (Human)
  • 蛋白长度：
    full length protein
  • 表达区域：
    1-570
  • 氨基酸序列
    MSRLEAKKPS LCKSEPLTTE RVRTTLSVLK RIVTSCYGPS GRLKQLHNGF GGYVCTTSQS SALLSHLLVT HPILKILTAS IQNHVSSFSD CGLFTAILCC NLIENVQRLG LTPTTVIRLN KHLLSLCISY LKSETCGCRI PVDFSSTQIL LCLVRSILTS KPACMLTRKE TEHVSALILR AFLLTIPENA EGHIILGKSL IVPLKGQRVI DSTVLPGILI EMSEVQLMRL LPIKKSTALK VALFCTTLSG DTSDTGEGTV VVSYGVSLEN AVLDQLLNLG RQLISDHVDL VLCQKVIHPS LKQFLNMHRI IAIDRIGVTL MEPLTKMTGT QPIGSLGSIC PNSYGSVKDV CTAKFGSKHF FHLIPNEATI CSLLLCNRND TAWDELKLTC QTALHVLQLT LKEPWALLGG GCTETHLAAY IRHKTHNDPE SILKDDECTQ TELQLIAEAF CSALESVVGS LEHDGGEILT DMKYGHLWSV QADSPCVANW PDLLSQCGCG LYNSQEELNW SFLRSTRRPF VPQSCLPHEA VGSASNLTLD CLTAKLSGLQ VAVETANLIL DLSYVIEDKN
  • 蛋白标签：
    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.
  • 产品提供形式：
    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.
  • 复溶：
    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.
  • 储存条件：
    Store at -20°C/-80°C upon receipt, aliquoting is necessary for mutiple use. Avoid repeated freeze-thaw cycles.
  • 保质期：
    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.
  • 货期：
    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.
  • 注意事项：
    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.

产品评价

靶点详情

  • 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.
  • 基因功能参考文献：
    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

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  • 相关疾病：
    McKusick-Kaufman syndrome (MKKS); Bardet-Biedl syndrome 6 (BBS6)
  • 亚细胞定位：
    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
  • 组织特异性：
    Widely expressed in adult and fetal tissues.
  • 数据库链接：

    HGNC: 7108

    OMIM: 236700

    KEGG: hsa:8195

    STRING: 9606.ENSP00000246062

    UniGene: Hs.472119