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  4. Recombinant Human IQ motif and SEC7 domain-containing protein 2 (IQSEC2), partial

Recombinant Human IQ motif and SEC7 domain-containing protein 2 (IQSEC2), partial

  • 中文名称：
    人IQSEC2重组蛋白
  • 货号：
    CSB-YP692286HU
  • 规格：
  • 来源：
    Yeast
  • 其他：
  • 中文名称：
    人IQSEC2重组蛋白
  • 货号：
    CSB-EP692286HU
  • 规格：
  • 来源：
    E.coli
  • 其他：
  • 中文名称：
    人IQSEC2重组蛋白
  • 货号：
    CSB-EP692286HU-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IQSEC2重组蛋白
  • 货号：
    CSB-BP692286HU
  • 规格：
  • 来源：
    Baculovirus
  • 其他：
  • 中文名称：
    人IQSEC2重组蛋白
  • 货号：
    CSB-MP692286HU
  • 规格：
  • 来源：
    Mammalian cell
  • 其他：

产品详情

  • 纯度：
    >85% (SDS-PAGE)
  • 基因名：
    IQSEC2
  • Uniprot No.：
    Q5JU85
  • 别名：
    BRAG1; IQ motif and SEC7 domain-containing protein 2; IQEC2_HUMAN; Iqsec2; KIAA0522; mKIAA0522; MRX1; RP11-258C19.1
  • 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：
    Is a guanine nucleotide exchange factor for the ARF GTP-binding proteins.
  • 基因功能参考文献：
    1. IQSEC2 mutation is associated with syndromic intellectual disability. PMID: 28815955
    2. A truncating variant in IQSEC2 identified as a cause of fatal epileptic encephalopathy in two sisters. The IQSEC2 variant was identified in both surviving affected sisters but in neither parent. PMID: 28295038
    3. A novel splicing variant in IQSEC2 co-segregates in a family with an X-linked form of intellectual disability. PMID: 26733290
    4. In the asymptomatic mother, the mutated copy of the CDKL5 gene was inactivated in 90% of blood cells. We also identified a premature stop codon (p.Arg926*) in IQSEC2 in a patient with a Rett-like phenotype. Finally, exome sequencing enabled us to characterize a heterozygous de novo missense (p.Val408Ala) in KCNA2 in a girl with infantile-onset seizures variant of Rett syndrome (RTT) PMID: 27062609
    5. This study demonstrated that IQSEC2 pathogenic variants are an important cause of epilepsy in intellectually disabled individuals from both genders. It can frequently manifest as an early onset EE. PMID: 27665735
    6. argue that it is clinically appropriate to test for IQSEC2 mutations in male and female patients with this symptom profile but without a known genetic mutation PMID: 27010919
    7. the extent of the duplicated regions in each case encompassing a minimum of three known disease genes TSPYL2, KDM5C and IQSEC2, is reported. PMID: 26059843
    8. This study demonstrates a dual role of BRAG1 in synaptic function. PMID: 27009485
    9. Truncating mutations in IQSEC2 are responsible for syndromic severe intellectual disability in male patients. PMID: 23674175
    10. data supports recently published data suggesting that IQSEC2 plays a more significant role in the development of X-linked intellectual disability with seizures than previously anticipated. PMID: 24306141
    11. Here we show that a mutation of IQSEC2, encoding a guanine nucleotide exchange factor for the ADP-ribosylation factor family of small GTPases, caused this disorder PMID: 20473311

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  • 相关疾病：
    Mental retardation, X-linked 1 (MRX1)
  • 亚细胞定位：
    Cytoplasm.
  • 蛋白家族：
    BRAG family
  • 组织特异性：
    Expressed in brain, kidney and small intestine. Weakly expressed in placenta, pancreas, ovary, prostate and liver.
  • 数据库链接：

    HGNC: 29059

    OMIM: 300522

    KEGG: hsa:23096

    STRING: 9606.ENSP00000379712

    UniGene: Hs.496138

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