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  4. Recombinant Human Beta-crystallin A3 (CRYBA1)

Recombinant Human Beta-crystallin A3 (CRYBA1)

  • 货号：
    CSB-YP006009HU
  • 规格：
  • 来源：
    Yeast
  • 其他：
  • 货号：
    CSB-EP006009HU
  • 规格：
  • 来源：
    E.coli
  • 其他：
  • 货号：
    CSB-EP006009HU-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：
  • 货号：
    CSB-BP006009HU
  • 规格：
  • 来源：
    Baculovirus
  • 其他：
  • 货号：
    CSB-MP006009HU
  • 规格：
  • 来源：
    Mammalian cell
  • 其他：

产品详情

  • 纯度：
    >85% (SDS-PAGE)
  • 基因名：
    CRYBA1
  • Uniprot No.：
  • 别名：
    Beta crystallin A3 isoform A1 Delta4 form; Beta crystallin A3; Beta crystallin A3 isoform A1 Delta7 form; Beta crystallin A3 isoform A1 Delta8 form; Beta-crystallin A3; CRBA1_HUMAN; CRYB1; CRYBA1; Crystallin beta A1; Crystallin beta A3; Delta8 form; Eye lens structural protein; isoform A1
  • 种属：
    Homo sapiens (Human)
  • 蛋白长度：
    Full length protein
  • 表达区域：
    1-215
  • 氨基酸序列
    METQAEQQEL ETLPTTKMAQ TNPTPGSLGP WKITIYDQEN FQGKRMEFTS SCPNVSERSF DNVRSLKVES GAWIGYEHTS FCGQQFILER GEYPRWDAWS GSNAYHIERL MSFRPICSAN HKESKMTIFE KENFIGRQWE ISDDYPSLQA MGWFNNEVGS MKIQSGAWVC YQYPGYRGYQ YILECDHHGG DYKHWREWGS HAQTSQIQSI RRIQQ
  • 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. We identified a de novo in-frame 3-bp deletion in the proband with an autosomal dominant congenital cataract, but not in her parents, in an Iranian family. This mutation has occurred de novo on a paternal gamete during spermatogenesis. The in-silico results predicted the interaction of CRYBA1 protein with the other CRY as well as proteins responsible for eye cell signaling. PMID: 28120589
    2. The findings suggest that impaired endolysosomal signaling in ocular astrocytes can cause PFV disease, by adversely affecting the vascular remodeling processes essential to ocular development, including regression of the fetal vasculature. [review] PMID: 26022148
    3. association between a frameshift mutation in exon 6 of CRYBA1/A3 and congenital cataracts PMID: 24926697
    4. A novel splice site mutation in CRYBA1/A3 is associated with autosomal dominant nuclear cataracts in a Chinese family. PMID: 22665976
    5. A splice site mutation (c.215+1G>A) at the first base of intron 3 of the crystallin beta A3/A1 (CRYBA3/A1) gene has been identified in Chinese congenital polymorphic cataract patients. PMID: 22919269
    6. ThebetaA3-crystallin and betaB1-crystallin homomers and the betaA3/betaB1-crystallin heteromer all undergo similar five-state folding pathways which include one dimeric and two monomeric intermediates. PMID: 22032798
    7. A G-->T splice site mutation of CRYBA1/A3 associated with autosomal dominant suture cataracts in a Chinese family. PMID: 21850182
    8. The c.279-281delGAG mutation in CRYBA1 is responsible for the autosomal dominant congenital nuclear cataract disease in this Chinese family. PMID: 21686330
    9. A serine-type protease activity of betaA3-crystalllin was responsible for its autodegradation. PMID: 21139689
    10. This is the first report of a phenotype of progressive nuclear and cortical cataracts related to the CRYBA3/A1 mutation IVS3+1 G>A. PMID: 21139983
    11. Mutations involved in congenital cataracts and deamidation in aged lenses commonly altered protein-protein interaction between human lens betaA3-crystallins. PMID: 20300566
    12. This study is the first report relating a mutation of CRYBA1/A3 to posterior polar cataract. PMID: 20142846
    13. A deletion mutation in the betaA1/A3 crystallin gene is associated with autosomal dominant congenital nuclear cataract PMID: 14598164
    14. comprehensive description of the biophysical consequences of a mutant beta-crystallin protein that is associated with human inherited cataract. PMID: 15016766
    15. The DeltaG91 mutation in CRYBA3/A1 is associated with an autosomal dominant congenital nuclear lactescent cataract PMID: 15111599
    16. The glutamine residues at the Q180 and the Q85 were substituted with glutamic acid residues by site-directed mutagenesis. These structural changes led to decreased stability during unfolding in urea and increased precipitation during heat denaturation. PMID: 17616172
    17. Delta91 mutation arise in a relatively mutation-prone sequence of the CRYBA1 gene. PMID: 17653060
    18. Deamidation destabilizes and triggers aggregation of crystallin beta A3. PMID: 18567786
    19. mixed betaB1- and betaA3-crystallins associate predominantly into heterotetramers in equilibrium with heterodimers PMID: 18823128
    20. deamidation decreased formation of hetero-oligomers between beta-crystallin subunits; excess accumulation of deamidated beta-crystallins in vivo may disrupt normal protein-protein interactions and diminish the stabilizing effects between them PMID: 19190732
    21. Results suggest that the N-terminal arm of betaB1-crystallin interacts with betaA3-crystallin during heterooligomerization, and the solubility of betaB1-crystallin and the heterooligomer are dependent on the intact C-terminal domain of betaB1-crystallin. PMID: 19548648

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  • 相关疾病：
    Cataract 10, multiple types (CTRCT10)
  • 蛋白家族：
    Beta/gamma-crystallin family
  • 数据库链接：

    HGNC: 2394

    OMIM: 123610

    KEGG: hsa:1411

    STRING: 9606.ENSP00000225387

    UniGene: Hs.46275