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  4. Recombinant Human Protein C8orf37 (C8orf37)

Recombinant Human Protein C8orf37 (C8orf37)

  • 中文名称：
    Recombinant Human Protein C8orf37(C8orf37),Yeast
  • 货号：
    CSB-YP842726HU
  • 规格：
  • 来源：
    Yeast
  • 其他：
  • 中文名称：
    Recombinant Human Protein C8orf37(C8orf37),Yeast
  • 货号：
    CSB-EP842726HU
  • 规格：
  • 来源：
    E.coli
  • 其他：
  • 中文名称：
    Recombinant Human Protein C8orf37(C8orf37),Yeast
  • 货号：
    CSB-EP842726HU-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 Protein C8orf37(C8orf37),Yeast
  • 货号：
    CSB-BP842726HU
  • 规格：
  • 来源：
    Baculovirus
  • 其他：
  • 中文名称：
    Recombinant Human Protein C8orf37(C8orf37),Yeast
  • 货号：
    CSB-MP842726HU
  • 规格：
  • 来源：
    Mammalian cell
  • 其他：

产品详情

  • 纯度：
    >85% (SDS-PAGE)
  • 基因名：
    C8orf37
  • Uniprot No.：
  • 别名：
    C8orf37; smalltalk; Protein C8orf37
  • 种属：
    Homo sapiens (Human)
  • 蛋白长度：
    full length protein
  • 表达区域：
    1-207
  • 氨基酸序列
    MAEDLDELLD EVESKFCTPD LLRRGMVEQP KGCGGGTHSS DRNQAKAKET LRSTETFKKE DDLDSLINEI LEEPNLDKKP SKLKSKSSGN TSVRASIEGL GKSCSPVYLG GSSIPCGIGT NISWRACDHL RCIACDFLVV SYDDYMWDKS CDYLFFRNNM PEFHKLKAKL IKKKGTRAYA CQCSWRTIEE VTDLQTDHQL RWVCGKH
  • 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：
    May be involved in photoreceptor outer segment disk morphogenesis.
  • 基因功能参考文献：
    1. We conclude that C8orf37 should be added to Bardet-Biedl syndrome (BBS) screening panels as a probable rare cause of the disease and that individuals with C8orf37-related retinal dystrophy should be screened for BBS features. PMID: 26854863
    2. This report extends the genotypic spectrum of C8orf37-associated retinal dystrophies and demonstrates for the first time a genotype-phenotype correlation between an arCRD-polydactyly-association and truncating germline mutations affecting the N-terminal region of the protein. PMID: 26865426
    3. This is the first functional validation and association of C8ORF37 mutations with the BBS phenotype, which identifies BBS21. The zebrafish studies hereby show that C8ORF37 variants underlie clinically diagnosed BBS-related phenotypes as well as isolated retinal degeneration PMID: 27008867
    4. Our study identified two novel truncating mutations of the C8orf37 gene in siblings with early-onset retinal dystrophy, macular atrophy, cataracts, and high myopia. PMID: 25113443
    5. Novel C8orf37 mutations cause retinitis pigmentosa in two consanguineous families of Pakistani origin. PMID: 25802487
    6. Mutations in C8orf37 give rise to an early or adolescent-onset autosomal recessive cone rod dystrophy or retinitis pigmentosa phenotype with early macular atrophy. PMID: 23788369
    7. In a ciliary-expressed gene (C8orf37), mutations were identified that are associated with autosomal recessive cone-rod dystrophy and retinitis pigmentosa with early macular involvement. PMID: 22177090

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  • 相关疾病：
    Cone-rod dystrophy 16 (CORD16); Retinitis pigmentosa 64 (RP64); Bardet-Biedl syndrome 21 (BBS21)
  • 亚细胞定位：
    Cytoplasm. Photoreceptor inner segment.
  • 组织特异性：
    Widely expressed, with highest levels in heart and brain. Also expressed in the retina (at protein level).
  • 数据库链接：

    HGNC: 27232

    OMIM: 614477

    KEGG: hsa:157657

    STRING: 9606.ENSP00000286688

    UniGene: Hs.548157