Cat: PA2000-6650

Recombinant Human Cep290 Protein,GST

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Analytical Data

  • Gene name

    Cep290

  • Application

    SPRMSTBLIITCELISACELL ASSAYDRUG SCREENING

  • Alternative Names

    3H11AG; Bardet-Biedl syndrome 14 Protein; BBS14; Cancer/testis antigen 87; CE290_HUMAN; Centrosomal Protein 290; Centrosomal Protein 290kDa; Centrosomal Protein of 290 kDa; Cep290; CT87; CTCL tumor antigen se2 2; FLJ13615

  • Species

    Human

  • Source

    E. coli

  • Tag

    GST-tag at N-terminal

  • Purity

    Greater than 90% as determined by SDS-PAGE.

  • Uniprot

    O15078

  • Expression Region

    1-164aa

  • AA Sequence

    MAIFKIAALQKVVDNSVSLSELELANKQYNELTAKYRDILQKDNMLVQRTSNLEHLECENISLKEQVESINKELEITKEKLHTIEQAWEQETKLGNESSMDKAKKSITNSDIVSISKKITMLEMKELNERQRAEHCQKMYEHLRTSLKQMEERNFELETKFAEV

  • Molecular Weight

    45.6 KDa

  • Endotoxin

    < 1.0 EU per μg protein as determined by the LAL method.

  • Form

    Freeze-dried powder

  • Buffer formulation

    PBS, pH7.4, containing 0.01% SKL, 1mM DTT, 5% Trehalose and Proclin300.

  • Reconstitution

    Reconstitute in ddH2O to a concentration of 0.1-0.5 mg/mL. Do not vortex.

  • Customization

    Site-directed mutagenesis Custom tag design Custom buffer formulation Custom full-length protein production

  • Stability Test

    The thermal stability is described by the loss rate. The loss rate was determined by accelerated thermal degradation test, that is, incubate the protein at 37℃ for 48h, and no obvious degradation and precipitation were observed. The loss rate isless than 8% within the expiration date under appropriate storage condition.

  • Storage & Shelf Life

    Samples are stable for up to twelve months from date of receipt at -20℃ to -80℃. Store it under sterile conditions at -20℃ to -80℃. It is recommended that the protein be aliquoted for optimal storage. Avoid repeated freeze-thaw cycles.

  • Shipping

    In general, recombinant proteins are supplied as lyophilized powder and shipped at ambient temperature. For bulk packages, the proteins are provided as frozen liquid and shipped with blue ice, unless otherwise requested by the customer.

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Protein Description

Cep290 (Centrosomal protein 290) is a crucial protein associated with the structure and function of centrioles and cilia, and it plays a significant role in ciliopathies, a group of genetic disorders caused by dysfunctional cilia. Mutations in the CEP290 gene are linked to various severe retinal degenerative diseases, such as Leber congenital amaurosis, and other syndromic conditions affecting multiple systems. The study of Cep290 involves understanding its role in cellular processes like photoreceptor development, signaling pathways, and the maintenance of ciliary structure. Given its importance in both health and disease, researchers are increasingly focusing on developing recombinant Cep290 proteins to study their functional properties, interactions, and the molecular mechanisms underlying ciliopathy pathogenesis. Recombinant Cep290 proteins can serve as valuable tools for elucidating the biochemical pathways disrupted by mutations, providing insights that could lead to potential therapeutic strategies. Moreover, studying the biophysical characteristics of Cep290 can help in designing gene therapy approaches aimed at treating the associated retinal disorders. Understanding the functional domains of Cep290 through recombinant technology can also unpack the complexities of its role in cellular homeostasis and how mutations impact its function, paving the way for innovative treatments and improved diagnosis of related diseases.

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