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  4. Recombinant Human Intraflagellar transport protein 122 homolog (IFT122), partial

Recombinant Human Intraflagellar transport protein 122 homolog (IFT122), partial

  • 中文名称：
    人IFT122重组蛋白
  • 货号：
    CSB-YP888019HU
  • 规格：
  • 来源：
    Yeast
  • 其他：
  • 中文名称：
    人IFT122重组蛋白
  • 货号：
    CSB-EP888019HU
  • 规格：
  • 来源：
    E.coli
  • 其他：
  • 中文名称：
    人IFT122重组蛋白
  • 货号：
    CSB-EP888019HU-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：
    人IFT122重组蛋白
  • 货号：
    CSB-BP888019HU
  • 规格：
  • 来源：
    Baculovirus
  • 其他：
  • 中文名称：
    人IFT122重组蛋白
  • 货号：
    CSB-MP888019HU
  • 规格：
  • 来源：
    Mammalian cell
  • 其他：

产品详情

  • 纯度：
    >85% (SDS-PAGE)
  • 基因名：
    IFT122
  • Uniprot No.：
    Q9HBG6
  • 别名：
    CED; IF122_HUMAN; IFT122; Intraflagellar transport 122 homolog (Chlamydomonas); Intraflagellar transport protein 122 homolog; SPG; WD repeat domain 10; WD repeat-containing protein 10; WD repeat-containing protein 140; WDR10; WDR10p; WDR140
  • 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：
    As a component of the IFT complex A (IFT-A), a complex required for retrograde ciliary transport and entry into cilia of G protein-coupled receptors (GPCRs), it is required in ciliogenesis and ciliary protein trafficking. Involved in cilia formation during neuronal patterning. Acts as a negative regulator of Shh signaling. Required to recruit TULP3 to primary cilia.
  • 基因功能参考文献：
    1. All the nine probands with syndromic craniosynostosis were found to carry the possibly causative variants, among which three variants including two missense mutations in IFT122 gene, in SMC1A gene and a frameshift mutation in TWIST1 gene have never been reported in patients before. PMID: 29037998
    2. Using a panel of skeletal dysplasias genes, including 11 related to SRP, we identified biallelic mutations in IFT122 in a fetus with a typical phenotype of SRP-IV, finally confirmed that this phenotype is a ciliopathy and adding to the list of ciliopathies with major skeletal involvement. PMID: 28370949
    3. The three patients had different, novel, compound heterozygous mutations in IFT122. Consequently, we compared these three patients to those previously described with IFT122 mutations. Thus, our report serves to add 6 novel mutations to the IFT122 mutation spectrum and to contribute to the IFT122-related clinical characterization. PMID: 26792575
    4. this study was able to find causative IFT122 mutations in a non-consanguineous family with recurrent abortions. PMID: 23826986
    5. we found a homozygous missense mutation in the IFT122 (WDR10) gene that cosegregated with Sensenbrenner syndrome PMID: 20493458

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  • 相关疾病：
    Cranioectodermal dysplasia 1 (CED1)
  • 亚细胞定位：
    Cell projection, cilium. Cytoplasm, cytoskeleton, cilium basal body.
  • 组织特异性：
    Expressed in many tissues. Predominant expression in testis and pituitary.
  • 数据库链接：

    HGNC: 13556

    OMIM: 218330

    KEGG: hsa:55764

    STRING: 9606.ENSP00000296266

    UniGene: Hs.655284

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