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  4. Recombinant Human Ankyrin-3 (ANK3), partial

Recombinant Human Ankyrin-3 (ANK3), partial

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  • 中文名稱：
  • 貨號：
    CSB-EP619642HU
  • 規(guī)格：
    ￥2328
  • 促銷：
    現貨重組蛋白特價促銷
  • 圖片：
    • (Tris-Glycine gel) Discontinuous SDS-PAGE (reduced) with 5% enrichment gel and 15% separation gel.
  • 其他：

產品詳情

  • 純度：
    Greater than 90% as determined by SDS-PAGE.
  • 基因名：
  • Uniprot No.：
  • 種屬：
    Homo sapiens (Human)
  • 蛋白長度：
    Partial
  • 來源：
    E.coli
  • 分子量：
    18.6 kDa
  • 表達區(qū)域：
    4088-4199aa
  • 氨基酸序列
    ERTDIRMAIVADHLGLSWTELARELNFSVDEINQIRVENPNSLISQSFMLLKKWVTRDGKNATTDALTSVLTKINRIDIVTLLEGPIFDYGNISGTRSFADENNVFHDPVDG
    Note: The complete sequence including tag sequence, target protein sequence and linker sequence could be provided upon request.
  • 蛋白標簽：
    N-terminal 6xHis-tagged
  • 產品提供形式：
    Liquid or 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.
  • 緩沖液：
    If the delivery form is liquid, the default storage buffer is Tris/PBS-based buffer, 5%-50% glycerol. If the delivery form is lyophilized powder, the buffer before lyophilization is Tris/PBS-based buffer, 6% Trehalose.
  • 復溶：
    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.
  • 注意事項：
    Repeated freezing and thawing is not recommended. Store working aliquots at 4°C for up to one week.
  • Datasheet & COA：
    Please contact us to get it.

產品評價

靶點詳情

  • 功能：
    In skeletal muscle, required for costamere localization of DMD and betaDAG1. Membrane-cytoskeleton linker. May participate in the maintenance/targeting of ion channels and cell adhesion molecules at the nodes of Ranvier and axonal initial segments. Regulates KCNA1 channel activity in function of dietary Mg(2+) levels, and thereby contributes to the regulation of renal Mg(2+) reabsorption.; May be part of a Golgi-specific membrane cytoskeleton in association with beta-spectrin.
  • 基因功能參考文獻：
    1. Polymorphism in ANK3 gene is associated with Fetal Alcohol Spectrum Disorders. PMID: 29109170
    2. an association between ANK3 rs10994336, rs10994338, rs4948418 and rs958852 and schizophrenia risk in a northern Chinese Han population. PMID: 27811378
    3. The combination of tract-based spatial statistics (TBSS) with genotyping can be powerful to unveil the role of white matter in bipolar disorder, in conjunction with risk genes, ANK3 and ZNF804A. PMID: 28648753
    4. A significant association was found between bipolar disorder and rs10994336 (OR=1.18; 95% confidence interval: 1.06-1.31; P=0.0027) as well as rs1938526 (OR=1.16; 95% confidence interval: 1.06-1.28; P=0.0016) in ANK3. PMID: 29068871
    5. Thus ANK3's important association with human bipolar susceptibility may arise from imbalance between AnkG function in interneurons and principal cells and resultant excessive circuit sensitivity and output. PMID: 27956739
    6. ANK3 expression is associated with androgen receptor stability, invasiveness, and lethal outcome in prostate cancer patients. PMID: 27534968
    7. Nonsense mutation in ANK3 was identified in a patient with speech impairment, intellectual disability and autistic features. PMID: 28687526
    8. Decreases in UF FA were observed among BD subjects carrying the ANK3 rs9804190 risk allele (T), compared to CC and T-carrier control subjects and BD CC homozygotes. PMID: 27240527
    9. we found significant associations between rs10994336 and the N170 during the facial affect processing across two independent samples of healthy adults. In both samples, the risk allele carriers (TT/TC) consistently showed reduced N170. Our result showed clear evidence that rs10994336 may impact on the early neural processes (as reflected in N170) of facial affect processing. PMID: 27177275
    10. This study identified a SNP in ANK3 with a strong protective effect for Bipolar Disorder and Schizophrenia. PMID: 26682468
    11. The haplotype analysis results suggest that ANK3 variants rs1938526 and rs10994336 may confer susceptibility for BD in the Korean population. Association analysis revealed a probable genetic difference between Korean and Caucasian populations in the degree of ANK3 involvement in BD pathogenesis. PMID: 28079488
    12. The ankyrin 3 genotype may be associated with pathogenesis of age-related neurodegeneration, and, in part, of bipolar disorder. PMID: 27488254
    13. Whole-exome sequencing in ASD patients from each family identified a second rare inherited genetic variant, affecting either the ANK3 genes encoding NLGN4X interacting proteins expressed in inhibitory or in excitatory synapses. PMID: 26055424
    14. we investigated the association of CACNA1C and ANK3 with SZ using meta-analytic techniques. PMID: 26227746
    15. ankyrin-G associates with and inhibits the endocytosis of VE-cadherin cis dimers. PMID: 26574545
    16. ANK3 rs10761482 showed a significant association with bipolar disorder PMID: 25311363
    17. ANK3 bipolar-risk polymorphisms are associated with hyperactivation in the ventral anterior cingulate cortex in bipolar disorder. PMID: 25711502
    18. Phosphorylation of KCNQ2 and KCNQ3 anchor domains by protein kinase CK2 augments binding to AnkG. PMID: 25998125
    19. Data suggest that death domain of ankyrin G (ANK3-DD; located near C-terminus) exhibits C-terminal tail that curves back so that aromatic ring of a phenylalanine residue anchors flexible tail onto core domain; ANK3-DD exists as monomer in solution. PMID: 25307106
    20. Here, we show that ANK3 gene expression in blood is significantly increased in bipolar disorder and schizophrenia compared with healthy controls. PMID: 24809399
    21. Kidney AE1 actually associates with epithelial ankyrin-G and renal ammonium transporter RhBG, which also binds ankyrin-G. PMID: 25616663
    22. This study demonistrated that ANK3 Bipolar disorder-associated variant rs139972937, responsible for an asparagine to serine. change (p = 0.042). PMID: 24716743
    23. Study showed a significant association between LMAN2L and risk of both bipolar disorder and schizophrenia PMID: 24914473
    24. ANK3 risk allele rs1938526 appears to be associated with general cognitive impairment and widespread cortical thinning in patients with first-episode psychosis PMID: 24016415
    25. These resultsindicatethatariskvariantwithin ANK3 may have an impact on neurocog- nitive function,suggesting a mechanism by which ANK3 confers risk for bipolar disorder. PMID: 24655771
    26. results indicated that genetic variation within ANK3 may exert gene-specific modulating effects onworking memory deficits in schizophrenia. PMID: 24361380
    27. A role of ANK3 in risk of stress-related and externalizing disorders, beyond its previous associations with bipolar disorder and schizophrenia. PMID: 23796624
    28. These findings suggest a brain-specific cis-regulatory transcriptional effect of ANK3 that may be relevant to BD pathophysiology. PMID: 22850628
    29. data established a role for ankG in the human adaptive immune response against resident brain proteins, and they show that ankG immunization reduces brain beta-amyloid and its related neuropathology PMID: 22688190
    30. ANK3 SNP associated with brain connectivity changes in bipolar disorder. PMID: 24108394
    31. haplotype associated with bipolar disorder in Latino populations PMID: 23715300
    32. inactivating mutations in the Ankyrin 3 (ANK3) gene in patients with severe cognitive deficits. PMID: 23390136
    33. study concludes that ANK3 gene has a major influence on susceptibility to schizophrenia across populations PMID: 23109352
    34. An association between ANK3 mutations and autism spectrum disorder susceptibility. PMID: 22865819
    35. show novel expression of genes near regions of significantly associated SNPS, including TMEM26 and FOXA1 in airway epithelium and lung parenchyma, and ANK3 in alveolar macrophages in COPD PMID: 22986903
    36. Cysteine 70 of ankyrin-G is S-palmitoylated and is required for function of ankyrin-G in membrane domain assembly. PMID: 23129772
    37. The findings of this study do not support a strong genetic link between bipolar disorder and major depressive disorder for ANK3 genes. PMID: 22647524
    38. Individuals carrying the bipolar disorder risk T-allele of ANK3 showed significantly reduced sensitivity in target detection, increased errors of commission, and atypical response latency variability. PMID: 22498896
    39. DNA sequencing revealed a novel low frequency (0.007) ANK3 SNP (ss469104599) which causes a non-conservative amino acid change at position 794 in the shorter isoforms of the ankyrin G protein. PMID: 22328486
    40. loss of AnkG expression may prevent the arrival of Cx43 to its final destination. PMID: 22180603
    41. results support a specific genetic contribution of ANK3 to bipolar disorder though failed to replicate findings for schizophrenia. PMID: 21702894
    42. The ANK3 rs9804190 C allele increases the risk for schizophrenia by affecting ANK3 expression levels PMID: 21893642
    43. These results further support that ANK3 is a susceptibility gene specific to bipolar disorder and that more than one risk locus is involved. PMID: 21972176
    44. association of SNPs rs10994336 and rs9804190 with bipolar disorders and psychosis subphenotype PMID: 21767209
    45. This study demonistreated that ANK3 genotype was associated with proneness to anhedonia. PMID: 21676128
    46. we did not find evidence for association between the bipolar disorder risk polymorphisms rs10994336 in the ANK3 gene and rs1006737 in the CACNA1C gene in migraine PMID: 21395576
    47. results suggest that allelic variation in ANK3 impacts cognitive processes associated with signal detection and this mechanism may relate to risk for Bipolar Disorder PMID: 21304963
    48. These findings supported the association between ANK3 and bipolar disorder, and also suggested the genomic region around rs1938526 as a common risk locus across ethnicities. PMID: 21438140
    49. there is genetic variation local to ANK3 gene affecting its expression, but that this variation is not responsible for increasing risk of bipolar disorder. PMID: 20636642
    50. The association of ANK3 with schizophrenia is intriguing in light of recent associations of ANK3 with bipolar disorder, thereby supporting the hypothesis of an overlap in genetic susceptibility between these psychopathological entities. PMID: 20185149

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  • 相關疾?。?/div>
    Mental retardation, autosomal recessive 37 (MRT37)
  • 亞細胞定位：
    Cytoplasm, cytoskeleton. Cell projection, axon. Cell membrane, sarcolemma. Cell junction, synapse, postsynaptic cell membrane. Lysosome. Cell membrane, sarcolemma, T-tubule.; [Isoform 5]: Cytoplasm, cytoskeleton. Golgi apparatus.
  • 組織特異性：
    Expressed in brain, neurons, muscles and other tissues.
  • 數據庫鏈接：

    HGNC: 494

    OMIM: 600465

    KEGG: hsa:288

    STRING: 9606.ENSP00000280772

    UniGene: Hs.499725