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  4. Recombinant Human Bardet-Biedl syndrome 10 protein (BBS10)

Recombinant Human Bardet-Biedl syndrome 10 protein (BBS10)

  • 中文名称：
    Recombinant Human Bardet-Biedl syndrome 10 protein(BBS10),Yeast
  • 货号：
    CSB-YP823443HU
  • 规格：
  • 来源：
    Yeast
  • 其他：
  • 中文名称：
    Recombinant Human Bardet-Biedl syndrome 10 protein(BBS10),Yeast
  • 货号：
    CSB-EP823443HU
  • 规格：
  • 来源：
    E.coli
  • 其他：
  • 中文名称：
    Recombinant Human Bardet-Biedl syndrome 10 protein(BBS10),Yeast
  • 货号：
    CSB-EP823443HU-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：
    Recombinant Human Bardet-Biedl syndrome 10 protein(BBS10),Yeast
  • 货号：
    CSB-BP823443HU
  • 规格：
  • 来源：
    Baculovirus
  • 其他：
  • 中文名称：
    Recombinant Human Bardet-Biedl syndrome 10 protein(BBS10),Yeast
  • 货号：
    CSB-MP823443HU
  • 规格：
  • 来源：
    Mammalian cell
  • 其他：

产品详情

  • 纯度：
    >85% (SDS-PAGE)
  • 基因名：
    BBS10
  • Uniprot No.：
  • 别名：
    BBS10; C12orf58Bardet-Biedl syndrome 10 protein
  • 种属：
    Homo sapiens (Human)
  • 蛋白长度：
    full length protein
  • 表达区域：
    1-723
  • 氨基酸序列
    MLSSMAAAGS VKAALQVAEV LEAIVSCCVG PEGRQVLCTK PTGEVLLSRN GGRLLEALHL EHPIARMIVD CVSSHLKKTG DGAKTFIIFL CHLLRGLHAI TDREKDPLMC ENIQTHGRHW KNCSRWKFIS QALLTFQTQI LDGIMDQYLS RHFLSIFSSA KERTLCRSSL ELLLEAYFCG RVGRNNHKFI SQLMCDYFFK CMTCKSGIGV FELVDDHFVE LNVGVTGLPV SDSRIIAGLV LQKDFSVYRP ADGDMRMVIV TETIQPLFST SGSEFILNSE AQFQTSQFWI MEKTKAIMKH LHSQNVKLLI SSVKQPDLVS YYAGVNGISV VECLSSEEVS LIRRIIGLSP FVPPQAFSQC EIPNTALVKF CKPLILRSKR YVHLGLISTC AFIPHSIVLC GPVHGLIEQH EDALHGALKM LRQLFKDLDL NYMTQTNDQN GTSSLFIYKN SGESYQAPDP GNGSIQRPYQ DTVAENKDAL EKTQTYLKVH SNLVIPDVEL ETYIPYSTPT LTPTDTFQTV ETLTCLSLER NRLTDYYEPL LKNNSTAYST RGNRIEISYE NLQVTNITRK GSMLPVSCKL PNMGTSQSYL SSSMPAGCVL PVGGNFEILL HYYLLNYAKK CHQSEETMVS MIIANALLGI PKVLYKSKTG KYSFPHTYIR AVHALQTNQP LVSSQTGLES VMGKYQLLTS VLQCLTKILT IDMVITVKRH PQKVHNQDSE DEL
  • 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. Involved in adipogenic differentiation.
  • 基因功能参考文献：
    1. In the 64 BBS patients (44 males, 20 females) were studied, mutations were predominant in BBS10 and ARL6 genes; the c.272T>C; p.(I91T) mutation in ARL6 gene was a recurrent mutation PMID: 29806606
    2. Genetic analysis revealed compound heterozygous BBS10 mutations in the patient: a novel missense mutation c.98G>A PMID: 29666954
    3. 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
    4. novel BBS10 mutations in Bardet-Biedl syndrome patients in Spain PMID: 24611592
    5. Novel mutation (c.1181_1182insGCATTTATACC) in BBS10 (p.S396Lfs*6) found in Tunisian families with Bardet-Biedl syndrome. PMID: 23432027
    6. A rare variant (c.1189A>G [p.Ile397Val]; rs202042386) confers risk of type 2 diabetes in a recessive state. PMID: 25439097
    7. We report two affected brothers from a consanguineous Pakistani Punjabi family, both the brothers were homozygous for c.1958_1967del, which is a novel deletion in BBS10 that is likely to be causing the Bardet-Biedl syndrome in this family. PMID: 23403234
    8. Mutations identified in the present study extend the body of evidence implicating the genes ARL6 and BBS10 in causing Bardet-Biedl syndrome. PMID: 23219996
    9. This study confirms the high frequency of BBS10 mutations, particularly of the p.Cys91LeufsX5 allele in Bardet-Biedl syndrome. PMID: 20805367
    10. Mutation in BBS10 modulates Bardet-Biedl syndrome in a sibling. PMID: 20827784
    11. 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
    12. Detected in a family with high consanguinity and Bardet-Biedl syndrome. PMID: 17101080
    13. the BBS10 and BBS12 proteins are located within the basal body of this primary cilium and inhibition of their expression impairs ciliogenesis, activates the GSK3 pathway, and induces PPAR nuclear accumulation, hence favoring adipogenesis PMID: 19190184

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  • 相关疾病：
    Bardet-Biedl syndrome 10 (BBS10)
  • 亚细胞定位：
    Cell projection, cilium.
  • 蛋白家族：
    TCP-1 chaperonin family
  • 数据库链接：

    HGNC: 26291

    OMIM: 610148

    KEGG: hsa:79738

    STRING: 9606.ENSP00000376946

    UniGene: Hs.96322