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  4. Recombinant Human Uncharacterized protein KIAA2022 (KIAA2022), partial

Recombinant Human Uncharacterized protein KIAA2022 (KIAA2022), partial

  • 中文名称：
    人NEXMIF重组蛋白
  • 货号：
    CSB-YP722181HU
  • 规格：
  • 来源：
    Yeast
  • 其他：
  • 中文名称：
    人NEXMIF重组蛋白
  • 货号：
    CSB-EP722181HU
  • 规格：
  • 来源：
    E.coli
  • 其他：
  • 中文名称：
    人NEXMIF重组蛋白
  • 货号：
    CSB-EP722181HU-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NEXMIF重组蛋白
  • 货号：
    CSB-BP722181HU
  • 规格：
  • 来源：
    Baculovirus
  • 其他：
  • 中文名称：
    人NEXMIF重组蛋白
  • 货号：
    CSB-MP722181HU
  • 规格：
  • 来源：
    Mammalian cell
  • 其他：

产品详情

  • 纯度：
    >85% (SDS-PAGE)
  • 基因名：
    NEXMIF
  • Uniprot No.：
    Q5QGS0
  • 别名：
    NEXMIF; KIAA2022Neurite extension and migration factor; XLMR protein related to neurite extension; XPN
  • 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 neurite outgrowth by regulating cell-cell adhesion via the N-cadherin signaling pathway. May act by regulating expression of protein-coding genes, such as N-cadherins and integrin beta-1 (ITGB1).
  • 基因功能参考文献：
    1. This is a study of the novel NEXMIF pathogenic variant in a boy with severe autistic features, intellectual disability, and epilepsy, and his mildly affected mother. PMID: 29717186
    2. Heterozygous loss of KIAA2022 expression is a cause of intellectual disability in females. Compared with its hemizygous male counterpart, the heterozygous female disease has less severe intellectual disability, but is more often associated with a severe and intractable myoclonic epilepsy. PMID: 27358180
    3. Two unrelated patients with X-linked intellectual disability found having the KIAA2022 mutation phenotype. PMID: 25900396
    4. Xpn regulates cell-cell and cell-matrix adhesion and cellular migration by regulating the expression of adhesion molecules PMID: 24071057
    5. study describes 3 new families with likely pathogenic mutations of KIAA2022 and further defined clinical and genetic phenotypes; role of KIAA2022 in neuronal development, together with the clinical features of patients observed, provides evidence that KIAA2022 is essential for proper brain development PMID: 23615299
    6. disrupted in X-linked mental retardation PMID: 15466006

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  • 相关疾病：
    Mental retardation, X-linked 98 (MRX98)
  • 亚细胞定位：
    Nucleus. Cytoplasm.
  • 组织特异性：
    Highly expressed in fetal and adult brain, predominantly in the cerebral cortex and the cerebellum. Also expressed in other tissues but to a lesser extent.
  • 数据库链接：

    HGNC: 29433

    OMIM: 300524

    KEGG: hsa:340533

    STRING: 9606.ENSP00000055682

    UniGene: Hs.124128

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