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LMX1B Antibody

  • 中文名稱:
    LMX1B兔多克隆抗體
  • 貨號:
    CSB-PA009846
  • 規格:
    ¥1090
  • 其他:

產品詳情

  • Uniprot No.:
  • 基因名:
    LMX1B
  • 別名:
    LIM homeo box transcription factor 1 beta antibody; LIM homeobox transcription factor 1 beta antibody; LIM homeobox transcription factor 1-beta antibody; LIM-homeobox protein 1.2 antibody; LIM/homeobox protein 1.2 antibody; LIM/homeobox protein LMX1B antibody; LMX 1.2 antibody; LMX-1.2 antibody; LMX1.2 antibody; LMX1B antibody; LMX1B_HUMAN antibody; MGC138325 antibody; MGC142051 antibody; NPS 1 antibody; NPS1 antibody
  • 宿主:
    Rabbit
  • 反應種屬:
    Human,Mouse
  • 免疫原:
    Synthesized peptide derived from the Internal region of Human LMX1B.
  • 免疫原種屬:
    Homo sapiens (Human)
  • 標記方式:
    Non-conjugated
  • 抗體亞型:
    IgG
  • 純化方式:
    The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.
  • 濃度:
    It differs from different batches. Please contact us to confirm it.
  • 保存緩沖液:
    Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.
  • 產品提供形式:
    Liquid
  • 應用范圍:
    WB, IHC, ELISA
  • 推薦稀釋比:
    Application Recommended Dilution
    WB 1:500-1:2000
    IHC 1:100-1:300
    ELISA 1:40000
  • Protocols:
  • 儲存條件:
    Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
  • 貨期:
    Basically, we can dispatch the products out in 1-3 working days after receiving your orders. Delivery time maybe differs from different purchasing way or location, please kindly consult your local distributors for specific delivery time.
  • 用途:
    For Research Use Only. Not for use in diagnostic or therapeutic procedures.

產品評價

靶點詳情

  • 功能:
    Essential for the specification of dorsal limb fate at both the zeugopodal and autopodal levels.
  • 基因功能參考文獻:
    1. Study reports two additional families with 18 affected individuals with nail patella-like renal disease (NPLRD). The predominant LMX1B mutation is the previously reported R246Q mutation. PMID: 28059119
    2. Study identified a novel heterozygous in-frame indel mutation of LMX1B in a family of Nail patella syndrome. PMID: 29290531
    3. 9q33.3q34.11 microdeletion including LMX1b gene identified in four patients with intellectual disability, epilepsy, nail dysplasia and bone malformations. PMID: 26395556
    4. Report progression of autosomal dominant renal-limited disease with LMX1B mutation. PMID: 26560070
    5. 38 different LMX1B polymorphisms have been found in 55 families with Nail-Patella Syndrome raising the hypothesis of a genetic heterogeneity. PMID: 25898926
    6. these results reveal a sustained and essential requirement of Lmx1b for the function of midbrain dopamine neurons PMID: 25915474
    7. A heterozygous microdeletion of the entire LMX1B gene using multiplex ligation-dependent probe amplification (MLPA) in a Chinese family with nail patella syndrome, is reported. PMID: 25380522
    8. Results demonstrate that loss of function may not be the only way that mutated LMX1b causes haploinsufficiency. Mutated LMX1b may interfere withdownsteam transcription events. PMID: 24720768
    9. In a large family with the two disorders with two novel frameshift TSC1 and LMX1B mutations, we describe the phenotypes PMID: 24477276
    10. LMX1B is a novel oncogene in ovarian cancer pathogenesis. PMID: 24056967
    11. this study identified two novel mutations of the LMX1B gene in three unrelated families with autosomaldominant Focal Segmental Glomerulosclerosis and no extrarenal features. PMID: 23687361
    12. LMX1B is important in regulating type IV collagen gene expression in the GBM of the developing kidney and also has a likely role in regulating additional genes important in podocyte function and maintenance PMID: 23046462
    13. Data report on the association of LMX1B with autism, though it should be viewed with some caution considering the modest associations we report. PMID: 21901133
    14. c.194 A>C (Q65P) mutation is present in the LMX1B gene of the Chilean patients with nail-patella syndrome associated with glaucoma. PMID: 21850167
    15. effect of lmx1b on gene expression regulation in the brain PMID: 21246047
    16. The co-occurrence of nail-patella syndrome, attention deficit hyperactivity disorder and major depressive disorder may be related to mesencephalic dopaminergic neurologic pathway abnormalities that are a consequence of LMX1B loss of function. PMID: 21184584
    17. Genetic variation in LMX1B may increase the risk of developing schizophrenia. PMID: 20570600
    18. LMX1B mutations is associated with Nail-Patella syndrome. PMID: 20531206
    19. novel mutations in patients with nail patella syndrome PMID: 11668639
    20. Transcriptional induction of slit diaphragm genes by Lmx1b is required in podocyte differentiation. PMID: 11956244
    21. The LIM-homeodomain transcription factor Lmx1b plays a crucial role in podocytes PMID: 11956245
    22. Review. Lmx1b is a homeodomain transcription factor required for glomerular basement membrane collagen expression by podocytes. Its absence in nail-patella syndrome causes abnormalities in many organ systems. PMID: 11978876
    23. LMX1B 17-bp deletion and A3243G mtDNA transition in a previously described PMID: 12646768
    24. These findings indicate that heterozygous mutations of LMX1B do not appear to dramatically affect the expression of type IV collagen chains, podocin, or CD2AP in nail-patella syndrome patients. PMID: 12819019
    25. Single nucleotide polymorphisms in LMX1B gene is associated with nail dysplasia in the nail patella syndrome PMID: 15638822
    26. This is the first study indicating that family history of nephropathy and mutation location might be important in precipitating individual risks for developing NPS renal disease PMID: 15928687
    27. Pathogenic mechanism resulting from the mutation is presumably haploinsufficiency rather than a dominant negative effect, which would explain the clinical variability in this family. PMID: 17515884
    28. familial Mediterranean fever (FMF) heterozygote mutation and nail-patella syndrome (NPS) in 3 members of a family with no pathologic mutation in the LMX1B gene PMID: 17710881
    29. The detection of two entire LMX1B gene deletions and one smaller exonic LMX1B deletion by multiplex ligation-dependent probe amplification (MLPA), is described. PMID: 18414507
    30. study reports a novel LMX1B gene mutation c.368_369delTG, p.C123X in a Japanese girl with the typical nail changes of nail-patella syndrome; the proband's father carried the same mutation, although his fingernails were intact PMID: 18562181
    31. a mutation in the LMX1B gene causes nail-patella syndrome in a Chinese population PMID: 18595794
    32. Familial, genetic proved ((missense mutation -G599A (R200Q)of LMX1B gene))of nail patella syndrome in a mother and her son PMID: 18634531
    33. LMX1B haplotypes influence susceptibility to glaucoma in the general population, suggesting altered LMX1B function predisposes to glaucomatous damage and that this role may be independent of raised intraocular pressure. PMID: 18952915
    34. These data demonstrate for the first time that LMX1B directly regulates transcription of a subset of NF-kappaB target genes in cooperation with nuclear p50/p65 NF-kappaB. PMID: 18996370
    35. podocin is specifically regulated by the transcription factor Lmx1b and by the functional polymorphism -116C/T. PMID: 19562271
    36. A synonymous genetic alteration of LMX1B in a family with nail-patella syndrome. PMID: 19721866

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  • 相關疾病:
    Nail-patella syndrome (NPS)
  • 亞細胞定位:
    Nucleus.
  • 組織特異性:
    Expressed in most tissues. Highest levels in testis, thyroid, duodenum, skeletal muscle, and pancreatic islets.
  • 數據庫鏈接:

    HGNC: 6654

    OMIM: 161200

    KEGG: hsa:4010

    STRING: 9606.ENSP00000347684

    UniGene: Hs.129133



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