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CRYBB1 Antibody

  • 货号：
    CSB-PA006012GA01HU
  • 规格：
    ￥3,900
  • 其他：

产品详情

  • Uniprot No.：
    P53674
  • 基因名：
    CRYBB1
  • 别名：
    Beta crystallin B1 antibody; Beta-B1 crystallin antibody; Beta-crystallin B1 antibody; CATCN3 antibody; CRBB1_HUMAN antibody; CRYBB 1 antibody; Crybb1 antibody; Crystallin beta B1 antibody; CTRCT17 antibody; Eye lens structural protein antibody; OTTHUMP00000028719 antibody
  • 宿主：
    Rabbit
  • 反应种属：
    Human,Mouse,Rat
  • 免疫原：
    Human CRYBB1
  • 免疫原种属：
    Homo sapiens (Human)
  • 抗体亚型：
    IgG
  • 纯化方式：
    Antigen Affinity Purified
  • 浓度：
    It differs from different batches. Please contact us to confirm it.
  • 保存缓冲液：
    PBS with 0.02% Sodium Azide, 50% Glycerol, pH 7.3. -20°C, Avoid freeze / thaw cycles.
  • 产品提供形式：
    Liquid
  • 应用范围：
    ELISA,WB
  • Protocols：
  • 储存条件：
    Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
  • 货期：
    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.

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. We examined a cohort of Chinese patients with congenital cataracts and studied the phenotypes and genotypes. Extralenticular abnormalities, such as microcornea and ocular coloboma, can also be found in patients with congenital cataracts. The phenotype of congenital cataracts associated with macular and optic disc coloboma was reported for the first time in this study. PMID: 29386872
    2. Our findings highlight the importance of the C-terminus in betaB1-crystallin in maintaining the crystalline function and stability, and provide a novel insight into the molecular mechanism underlying the pathogenesis of human autosomal dominant congenital cataract. PMID: 28928627
    3. CRYBB1 partial duplication ad complete duplication of CRYBA4 identified in a family with autosomal dominant congenital cataract. PMID: 28272538
    4. Molecular dynamic simulation studies indicated that the mutation decreased the subunit binding energy and modified the distribution of surface electrostatic potentials. More importantly, the mutation separated two interacting loops in the C-terminal domain, which shielded the hydrophobic core from solvent in native betaB1-crystallin. PMID: 27318838
    5. Congenital microcornea-cataract syndrome-causing mutation X253R increases betaB1-crystallin hydrophobicity to promote aggregate formation PMID: 27208166
    6. Despite the disruption of betaB1-crystallin assembly, the thermal stability of betaB1-crystallin was increased by the mutation accompanied by the reduction of thermal aggregation at high temperatures PMID: 23159606
    7. Sequencing of this gene revealed a homozygous c.171del mutation (p.N58Tfs*107) with a shared haplotype in all 16 children. PMID: 22267527
    8. study identified a novel heterozygous p.Ser129Arg mutation in CRYBB1 in a congenital cataract-microcornea syndrome family of Chinese origin PMID: 21972112
    9. The formation of beta-crystallin heteromers not only stabilizes the unstable acidic beta-crystallin but also protects them against aggregation during refolding from the stress-denatured states. PMID: 22032798
    10. The presence of significant amounts of small peptides derived from gammaS- and betaB1-crystallins in the water-insoluble fraction of the lens indicates that these interact tightly with cytoskeletal or membrane components. PMID: 21447408
    11. Analyses of 20 Chinese families with hereditary nuclear congenital cataract revealed 3 novel mutations. Two of these mutations (V146M and I21N) affected betaB2-crystallin (CRYBB2). One mutation (R233H) was detected in betaB1-crystallin (CRYBB1). PMID: 21402992
    12. Variant alleles of the CRYBB1 and CRYBB2 genes were found, none are considered pathogenic. PMID: 20565250
    13. Data show a significant demixing of gammaD and betaB1 i.e., large difference of composition in the two coexisting phases. PMID: 20616077
    14. Mutation G220X is associated with autosomal dominant cataract. PMID: 12360425
    15. 1.4 angstroms resolution crystal structure of a truncated version of human betaB1 that resembles an in vivo age-related truncation PMID: 14573871
    16. The molecular characterization of a UK family with an autosomal dominant congenital cataract associated with microcornea is reported PMID: 16110300
    17. fundamental transcriptional regulatory mechanism of the betaB1-crystallin gene has been well conserved between humans and zebrafish PMID: 16331646
    18. the sequence of betaB2-crystallin appears well optimized for domain swapping PMID: 17327390
    19. The dimeric intermediate may be a critical determinant for the life-long stability of the beta-crystallins and has important consequences on interactions with alpha-crystallin. PMID: 17448466
    20. The current study showed that a different mutation in the same gene causes an autosomal recessive form of the disease. PMID: 17460281
    21. study identified a novel mutation in CRYBB1 gene in a Chinese family with autosomal dominant congenital cataract; results provide strong evidence that CRYBB1 is a pathogenic gene for congenital cataract PMID: 17531125
    22. This study has identified a novel nonsense mutation in CRYBB1 (p.Q223X) associated with autosomal dominant congenital nuclear cataract. PMID: 18432316
    23. study identified an initiation codon mutation in CRYBB1 in a family with autosomal recessive form of congenital cataract (nuclear pulverulent cataract) PMID: 19461930

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  • 相关疾病：
    Cataract 17, multiple types (CTRCT17)
  • 蛋白家族：
    Beta/gamma-crystallin family
  • 数据库链接：

    HGNC: 2397

    OMIM: 600929

    KEGG: hsa:1414

    STRING: 9606.ENSP00000215939

    UniGene: Hs.37135