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  4. Recombinant Human Uncharacterized protein C5orf42 (C5orf42), partial

Recombinant Human Uncharacterized protein C5orf42 (C5orf42), partial

  • 中文名称：
    Recombinant Human Uncharacterized protein C5orf42(C5orf42) ,partial
  • 货号：
    CSB-YP872510HU
  • 规格：
  • 来源：
    Yeast
  • 其他：
  • 中文名称：
    Recombinant Human Uncharacterized protein C5orf42(C5orf42) ,partial
  • 货号：
    CSB-EP872510HU
  • 规格：
  • 来源：
    E.coli
  • 其他：
  • 中文名称：
    Recombinant Human Uncharacterized protein C5orf42(C5orf42) ,partial
  • 货号：
    CSB-EP872510HU-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 Uncharacterized protein C5orf42(C5orf42) ,partial
  • 货号：
    CSB-BP872510HU
  • 规格：
  • 来源：
    Baculovirus
  • 其他：
  • 中文名称：
    Recombinant Human Uncharacterized protein C5orf42(C5orf42) ,partial
  • 货号：
    CSB-MP872510HU
  • 规格：
  • 来源：
    Mammalian cell
  • 其他：

产品详情

  • 纯度：
    >85% (SDS-PAGE)
  • 基因名：
    C5orf42
  • Uniprot No.：
    Q9H799
  • 别名：
    CPLANE1; C5orf42; JBTS17; Ciliogenesis and planar polarity effector 1; Protein JBTS17
  • 种属：
    Homo sapiens (Human)
  • 蛋白长度：
    Partial
  • 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：
    Involved in ciliogenesis. Involved in the establishment of cell polarity required for directional cell migration. Proposed to act in association with the CPLANE (ciliogenesis and planar polarity effectors) complex. Involved in recruitment of peripheral IFT-A proteins to basal bodies.
  • 基因功能参考文献：
    1. Seven novel germline recessive mutations in CPLANE1, including missense, nonsense, frameshift and canonical splice site variants, were identified in OFD6 patients. PMID: 29605658
    2. In C5orf42-mutant Joubert syndrome patients, the infratentorial magnetic resonance images showed normal or minimally thickened and minimally elongated superior cerebellar peduncles, normal or minimally deepened interpeduncular fossa, and mild vermian hypoplasia. PMID: 28431631
    3. C5orf42 is one of the causative genes for OFDVI. PMID: 25846457
    4. C5orf42 mutation is associated with Oral-facial-digital syndrome type VI. PMID: 25407461
    5. We identified causal C5orf42 mutations in 9/11 families meeting OFD VI diagnostic criteria, but no mutation in individuals with partly overlapping features. PMID: 24178751
    6. C5orf42 and KIAA1377 gene synergistically play a role as susceptibility genes for monomelic amyotrophy. PMID: 22264561
    7. The data suggested that mutations in C5ORF42 explain a large percentage of French Canadian individuals with Joubert syndrome. PMID: 22425360

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  • 相关疾病：
    Joubert syndrome 17 (JBTS17); Orofaciodigital syndrome 6 (OFD6)
  • 亚细胞定位：
    Membrane; Multi-pass membrane protein. Cell projection, cilium.
  • 数据库链接：

    HGNC: 25801

    OMIM: 277170

    KEGG: hsa:65250

    STRING: 9606.ENSP00000389014

    UniGene: Hs.586199

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