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  4. Recombinant Human Beta-crystallin B2 (CRYBB2)

Recombinant Human Beta-crystallin B2 (CRYBB2)

  • 中文名称：
    Recombinant Human Beta-crystallin B2(CRYBB2),Yeast
  • 货号：
    CSB-YP006013HU
  • 规格：
  • 来源：
    Yeast
  • 其他：
  • 中文名称：
    Recombinant Human Beta-crystallin B2(CRYBB2),Yeast
  • 货号：
    CSB-EP006013HU
  • 规格：
  • 来源：
    E.coli
  • 其他：
  • 中文名称：
    Recombinant Human Beta-crystallin B2(CRYBB2),Yeast
  • 货号：
    CSB-EP006013HU-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 Beta-crystallin B2(CRYBB2),Yeast
  • 货号：
    CSB-BP006013HU
  • 规格：
  • 来源：
    Baculovirus
  • 其他：
  • 中文名称：
    Recombinant Human Beta-crystallin B2(CRYBB2),Yeast
  • 货号：
    CSB-MP006013HU
  • 规格：
  • 来源：
    Mammalian cell
  • 其他：

产品详情

  • 纯度：
    >85% (SDS-PAGE)
  • 基因名：
    CRYBB2
  • Uniprot No.：
  • 别名：
    Beta crystallin B2; Beta crystallin Bp; Beta-B2 crystallin; Beta-crystallin B2; Beta-crystallin Bp; CCA 2; CCA2; CRBB2_HUMAN; CRY B2; CRYB 2; CRYB B2; CRYB2; CRYB2A; CRYBB 2; CRYBB2; Crystallin beta B2; D22S665; Eye lens structural protein; OTTHUMP00000198622
  • 种属：
    Homo sapiens (Human)
  • 蛋白长度：
    Full Length of Mature Protein
  • 表达区域：
    2-205
  • 氨基酸序列
    ASDHQTQAG KPQSLNPKII IFEQENFQGH SHELNGPCPN LKETGVEKAG SVLVQAGPWV GYEQANCKGE QFVFEKGEYP RWDSWTSSRR TDSLSSLRPI KVDSQEHKII LYENPNFTGK KMEIIDDDVP SFHAHGYQEK VSSVRVQSGT WVGYQYPGYR GLQYLLEKGD YKDSSDFGAP HPQVQSVRRI RDMQWHQRGA FHPSN
  • 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：
    Crystallins are the dominant structural components of the vertebrate eye lens.
  • 基因功能参考文献：
    1. conserved Trp residues might play a more crucial role in the correct folding and structural integrity of beta-crystallin domains than in gamma-crystallins PMID: 28528950
    2. The first pregnancy was terminated in week 22. Copy number variation analysis revealed, in both the aborted fetus and the mother, a 495 kb duplication at 22q11.23 encompassing CRYBB3 and CRYBB2 PMID: 27256633
    3. Study demonstrates that, in solution, human betaB2-crystallin is not domain swapped and exhibits a face-en-face dimer structure similar to the crystal structure of truncated betaB1-crystallin. PMID: 28238532
    4. This is the first study to analyze the association between genetic variations in the CRYBB2 gene with PCa. rs9608380, associated with Prostate cancer, is a potentially functional variant PMID: 25964531
    5. Congenital cataracts were caused by the de novo gene conversion event in CRYBB2 in a consanguineous Jewish Ashkenazi family. PMID: 25489230
    6. missense mutation in CRYBB2 gene leads to progressive congenital membranous cataract by impacting the solubility and function of betaB2-crystallin PMID: 24312286
    7. The distinct behaviors of the mutants suggested that the residue at position 188 might play a regulatory role in betaB2-crystallin aggregation/fibrillization but not reside in the core of the aggregates/fibrils. PMID: 24704203
    8. The last strand at the C-terminus of CRYBB2 is important for the protein stability and assembly. PMID: 24120835
    9. Identification of the first CRYBB2 mutation in an Italian family causing a clinical picture of autosomal dominant congenital cataract. PMID: 22846113
    10. The congenital cataract-linked A2V mutation impairs tetramer formation and promotes aggregation of betaB2-crystallin. PMID: 23236454
    11. A novel missense mutation, p.Arg188His, in CRYBB2 is associated with congenital cataract in a family of Croatian origin. PMID: 22312185
    12. The Asp residue at position 4 of betaB2-crystallin in the lenses of the aged human eye lenses undergoes a significant degree of inversion and isomerization to the biologically D-beta-Asp. PMID: 21877723
    13. analysis of a novel CRYBB2 gene mutation, resulting in the amino substitution p. A2V in a Chinese family with posterior subcapsular congenital cataracts PMID: 21245961
    14. a novel cataract-causing mutation, c.92C>G in exon 2 of the CRYBB2 gene, which causes the 31st residue serine substituted by tryptophan (S31W), was identified in an autosomal dominant coronary cataract family. PMID: 18617901
    15. Two new mutations, one in GJA3 and the other in CRYBB2, were identified co-segregating along with the respective cataract phenotype within the families that were not seen in healthy controls from India or Germany. PMID: 21031021
    16. calculation of the standard free-energy by equilibrium unfolding transition in guanidine hydrochloride PMID: 12457849
    17. Results show that betaB2-crystallin undergoes age-related truncation producing fragments with M(r) between 4 and 19kDa that are present in the beta(H)-crystallin oligomer. PMID: 12535638
    18. Exon 6 of CRYBB2 appears to be a critical region susceptible for mutations leading to lens opacity. PMID: 15452067
    19. Our finding expands the spectrum of cataract phenotypes caused by the Q155X mutation of CRYBB2, confirms the phenotypic heterogeneity of this mutation and suggests the mechanism that influences the congenital cataract formation. PMID: 16179907
    20. The V60E and V144E mutants were found to be partially unfolded and incapable of forming a complete dimer. PMID: 16319073
    21. These results suggest that deamidation at critical sites destabilizes betaB2 and may disrupt the function of betaB2 in the lens. PMID: 16519509
    22. Cataracts in ADC53 Chilean family are caused by mutation in CRYBB2 gene; as 2 variations in CRYBB2 are identical to reference sequence of pseudogene CRYBB2P1, which has over 97% homology to CRYBB2, a gene conversion probably has occurred. PMID: 17234267
    23. the CRYBB2 D128V mutation segregates only in family members affected with congenital cataracts and is not seen in representative controls; it represents the first mutation outside exon 6 of the human CRYBB2 gene PMID: 17653036
    24. combined with previously reported observations of alpha-crystallin quaternary structure have led us to propose a structural model of how activated alpha-crystallin chaperones unfolded betaB2-crystallin PMID: 17937660
    25. These results provide evidence that CRYBB2 is a pathogenic gene for congenital cataracts; at the same time, congenital cataracts are a clinically and genetically heterogeneous lens condition. PMID: 18449377
    26. This is the first report of congenital cerulean cataract associated with a mutation in CRYBB2 in a Chinese family. PMID: 19321936
    27. This study identified a missense mutation in CRYBB2 in a family of Basotho with autosomal dominant congenital cataract (ADCC). PMID: 19649175

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  • 相关疾病：
    Cataract 3, multiple types (CTRCT3)
  • 蛋白家族：
    Beta/gamma-crystallin family
  • 数据库链接：

    HGNC: 2398

    OMIM: 123620

    KEGG: hsa:1415

    STRING: 9606.ENSP00000381273

    UniGene: Hs.373074