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  4. Recombinant Human Autism susceptibility gene 2 protein (AUTS2), partial

Recombinant Human Autism susceptibility gene 2 protein (AUTS2), partial

  • 中文名稱：
    Recombinant Human Autism susceptibility gene 2 protein(AUTS2) ,partial
  • 貨號：
    CSB-YP823908HU
  • 規(guī)格：
  • 來源：
    Yeast
  • 其他：
  • 中文名稱：
    Recombinant Human Autism susceptibility gene 2 protein(AUTS2) ,partial
  • 貨號：
    CSB-EP823908HU
  • 規(guī)格：
  • 來源：
    E.coli
  • 其他：
  • 中文名稱：
    Recombinant Human Autism susceptibility gene 2 protein(AUTS2) ,partial
  • 貨號：
    CSB-EP823908HU-B
  • 規(guī)格：
  • 來源：
    E.coli
  • 共軛：
    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：
  • 中文名稱：
    Recombinant Human Autism susceptibility gene 2 protein(AUTS2) ,partial
  • 貨號：
    CSB-BP823908HU
  • 規(guī)格：
  • 來源：
    Baculovirus
  • 其他：
  • 中文名稱：
    Recombinant Human Autism susceptibility gene 2 protein(AUTS2) ,partial
  • 貨號：
    CSB-MP823908HU
  • 規(guī)格：
  • 來源：
    Mammalian cell
  • 其他：

產(chǎn)品詳情

  • 純度：
    >85% (SDS-PAGE)
  • 基因名：
    AUTS2
  • Uniprot No.：
  • 別名：
    Autism related protein 1; Autism susceptibility candidate 2; Autism susceptibility gene 2 protein; AUTS2; AUTS2_HUMAN; FBRSL2; KIAA0442; MGC13140
  • 種屬：
    Homo sapiens (Human)
  • 蛋白長度：
    Partial
  • 蛋白標(biāo)簽：
    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.
  • 產(chǎn)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.
  • 復(fù)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.
  • 儲存條件：
    Store at -20°C/-80°C upon receipt, aliquoting is necessary for mutiple use. Avoid repeated freeze-thaw cycles.
  • 保質(zhì)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.
  • 貨期：
    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.
  • 注意事項：
    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.

產(chǎn)品評價

靶點詳情

  • 功能：
    Component of a Polycomb group (PcG) multiprotein PRC1-like complex, a complex class required to maintain the transcriptionally repressive state of many genes, including Hox genes, throughout development. PcG PRC1 complex acts via chromatin remodeling and modification of histones; it mediates monoubiquitination of histone H2A 'Lys-119', rendering chromatin heritably changed in its expressibility. The PRC1-like complex that contains PCGF5, RNF2, CSNK2B, RYBP and AUTS2 has decreased histone H2A ubiquitination activity, due to the phosphorylation of RNF2 by CSNK2B. As a consequence, the complex mediates transcriptional activation. In the cytoplasm, plays a role in axon and dendrite elongation and in neuronal migration during embryonic brain development. Promotes reorganization of the actin cytoskeleton, lamellipodia formation and neurite elongation via its interaction with RAC guanine nucleotide exchange factors, which then leads to the activation of RAC1.
  • 基因功能參考文獻：
    1. This study demonstrated that Cocaine-Induced Chromatin Modifications Associate With Increased Expression and Three-Dimensional Looping of Auts2. PMID: 28577753
    2. chromatin complexes PRC1/AUTS2 and PRC2 in a gene network in T-ALL regulating early lymphoid differentiation. PMID: 27322685
    3. BCL7A, BRWD3, and AUTS2 demonstrate significantly higher mutation frequencies among AA cases. These genes are all involved in translocations in B-cell malignancies. Moreover, we detected a significant difference in mutation frequency of TP53 and IRF4 with frequencies higher among CA cases. Our study provides rationale for interrogating diverse tumor cohorts to best understand tumor genomics across populations. PMID: 29166413
    4. AUTS2 syndrome emerges as a specific ID syndrome with microcephaly. PMID: 27075013
    5. This clinical report provides the natural history in the eldest patient yet to be reported, and complements the existing evidence suggesting that disruption of the AUTS2 leads to a recently delineated neurodevelopmental phenotype with a wide spectrum, namely "AUTS2 Syndrome." PMID: 27531620
    6. Results showed the frequencies of the AUTS2 haplotypes significantly different between them, and the rs6943555 and rs9886351 A-A haplotype was associated with alcohol dependence in a Japanese population. PMID: 26763194
    7. Exonic deletions of AUTS2 is associated with developmental delay and intellectual disability. PMID: 26545289
    8. Heterozygous Disruption of Autism susceptibility candidate 2 Causes Impaired Emotional Control and Cognitive Memory PMID: 26717414
    9. The AUTS2 gene has been repeatedly implicated in neurodevelopmental disorders including autism, intellectual disability and developmental delay. PMID: 26348319
    10. In summary, our results indicate that AUTS2 is a candidate biomarker for defining liver metastasis of pancreatic cancer and directing personalized therapies. PMID: 25962312
    11. similarities between the phenotypes of 2 male patients with AUTS2 variants support that AUTS2 syndrome is a single gene disorder. PMID: 25205402
    12. AA homozygotes of rs6943555 were significantly over-represented in the patients with heroin dependence. PMID: 25398668
    13. polymorphism rs6943555 might elucidate the pathogenesis of schizophrenia and play an important role in its etiology PMID: 25347278
    14. the CK2 component of PRC1-AUTS2 neutralizes PRC1 repressive activity, whereas AUTS2-mediated recruitment of P300 leads to gene activation. PMID: 25519132
    15. This is one of the smallest de novo intragenic deletions of AUTS2. PMID: 24459036
    16. AUTS2 mutations are associated with autism spectrum disorder. PMID: 24859339
    17. AUTS2, its discovery, expression, association with autism and other neurological and non-neurological traits, implication in human evolution, function, regulation, and genetic pathways, are reviewed. PMID: 24008202
    18. the role of AUTS2 in normal neurological development and its altered expression may result in a variety of neurobehavioral phenotypes PMID: 22872102
    19. AUTS2 rs6943555 A allele is associated with suicide committed after drinking ethanol shortly before death. PMID: 23437340
    20. This study indicates that there might be a genetic association of AUTS2 with susceptibility to heroin dependence. Reduced gene expression of AUTS2 in lymphoblastoid cell lines may increase the risk for heroin dependence. PMID: 22995765
    21. our results show that AUTS2 is important for neurodevelopment and expose candidate enhancer sequences in which nucleotide variation could lead to neurological disease and human-specific traits. PMID: 23349641
    22. These observations demonstrate a causal role of AUTS2 in neurocognitive disorders. PMID: 23332918
    23. PAX5-AUTS2: a recurrent fusion gene in childhood B-cell precursor acute lymphoblastic leukemia. PMID: 22578776
    24. SNP rs6943555 in autism susceptibility candidate 2 gene (AUTS2) was associated with alcohol consumption at genome-wide significance (P = 4 x 10(-8) to P = 4 x 10(-9)). PMID: 21471458
    25. A de novo balanced translocation breakpoint truncating the autism susceptibility candidate 2 gene is associated with autism. PMID: 20635338

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  • 相關(guān)疾?。?/div>
    Mental retardation, autosomal dominant 26 (MRD26)
  • 亞細(xì)胞定位：
    Nucleus. Cytoplasm, cytoskeleton. Cell projection, growth cone.
  • 蛋白家族：
    AUTS2 family
  • 組織特異性：
    Strongly expressed in brain, skeletal muscle and kidney. Also expressed in placenta, lung and leukocytes.
  • 數(shù)據(jù)庫鏈接：

    HGNC: 14262

    OMIM: 607270

    KEGG: hsa:26053

    STRING: 9606.ENSP00000344087

    UniGene: Hs.21631