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CRYGC Antibody

  • 货号：
    CSB-PA006019GA01HU
  • 规格：
    ￥3,900
  • 其他：

产品详情

  • Uniprot No.：
    P07315
  • 基因名：
    CRYGC
  • 别名：
    CATARACT; VARIABLE ZONULAR PULVERULENT antibody; CCL antibody; CRGC_HUMAN antibody; CRYG 3 antibody; Cryg 5 antibody; Cryg antibody; CRYG3 antibody; CRYGC antibody; Crystallin gamma 3 antibody; Crystallin gamma C antibody; Gamma C crystallin antibody; Gamma crystallin 2 1 antibody; Gamma crystallin 3 antibody; Gamma crystallin C antibody; Gamma-C-crystallin antibody; Gamma-crystallin 2-1 antibody; Gamma-crystallin 3 antibody; Gamma-crystallin C antibody; Gammab cry antibody; Len antibody
  • 宿主：
    Rabbit
  • 反应种属：
    Human,Mouse,Rat
  • 免疫原：
    Human CRYGC
  • 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 0.1% 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. Study identified eight different mutations in CRYGC associated with autosomal dominant congenital nuclear cataracts (ADCC) in a cohort of Chinese family and shows that CRYGC mutations are responsible for 4.1% of ADCC families in the cohort. The results expand the spectrum of CRYGC mutations as well as their associated phenotypes. PMID: 28298635
    2. the G129C mutation in gammaC-crystallin, which is associated with autosomal dominant congenital nuclear cataract, perturbed the unfolding process by promoting the accumulation of two distinct aggregation-prone intermediates under mild denaturing conditions. PMID: 26165230
    3. Exome sequencing in developmental eye disease leads to identification of causal variants in GJA8, CRYGC, PAX6 and CYP1B1. PMID: 24281366
    4. We confirm that congenital cataract is associated with a CRYGC gene mutation. PMID: 23954869
    5. identified a CRYAA mutation in family A and a CRYGC mutation in family B with congenital cataract PMID: 23441109
    6. A nonsense mutation c.471G>A in CRYGC is associated with autosomal dominant congenital nuclear cataracts and microcornea in a Chinese pedigree. PMID: 22876111
    7. Molecular modeling and spectroscopic studies indicated that the mutation impaired the tertiary structure of gamma C crystallin by modifying the H-bonding network in the C-terminal domain. PMID: 22052681
    8. Transgenic expression of mutant CRYGC5bpd gamma-crystallin at near-physiological levels causes lens opacities and fiber cell defects, confirming the pathogenicity of this mutation. PMID: 21436266
    9. The T5P mutation obviously changes conformation and decreases conformational stability. PMID: 11904153
    10. the loss of interactions of T5P mutant of the gammaC-crystallin with other crystallins may play a larger role than the protection afforded by chaperone-like activity in Coppock-like cataract. PMID: 15322286
    11. This is the first case of phenotypic heterogeneity in the primary congenital cataract specifically associated with the R168W mutation in the CRYGC gene. PMID: 17679936
    12. Identification of a novel nonsense mutation in CRYGC in a Chinese family with autosomal dominant congenital nuclear cataracts and microcornea. PMID: 19204787

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  • 相关疾病：
    Cataract 2, multiple types (CTRCT2)
  • 蛋白家族：
    Beta/gamma-crystallin family
  • 数据库链接：

    HGNC: 2410

    OMIM: 123680

    KEGG: hsa:1420

    STRING: 9606.ENSP00000282141

    UniGene: Hs.72910