LMX1B Antibody
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中文名稱：LMX1B兔多克隆抗體
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貨號：CSB-PA009846
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規格：￥1090
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其他：
產品詳情
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Uniprot No.：
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基因名：LMX1B
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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
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宿主：Rabbit
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反應種屬：Human,Mouse
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免疫原：Synthesized peptide derived from the Internal region of Human LMX1B.
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免疫原種屬：Homo sapiens (Human)
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標記方式：Non-conjugated
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抗體亞型：IgG
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純化方式：The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.
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濃度：It differs from different batches. Please contact us to confirm it.
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保存緩沖液：Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.
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產品提供形式：Liquid
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應用范圍：WB, IHC, ELISA
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推薦稀釋比：
Application Recommended Dilution WB 1:500-1:2000 IHC 1:100-1:300 ELISA 1:40000 -
Protocols：
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儲存條件：Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
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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.
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用途：For Research Use Only. Not for use in diagnostic or therapeutic procedures.
產品評價
相關產品
靶點詳情
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功能：Essential for the specification of dorsal limb fate at both the zeugopodal and autopodal levels.
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基因功能參考文獻：
- 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
- Study identified a novel heterozygous in-frame indel mutation of LMX1B in a family of Nail patella syndrome. PMID: 29290531
- 9q33.3q34.11 microdeletion including LMX1b gene identified in four patients with intellectual disability, epilepsy, nail dysplasia and bone malformations. PMID: 26395556
- Report progression of autosomal dominant renal-limited disease with LMX1B mutation. PMID: 26560070
- 38 different LMX1B polymorphisms have been found in 55 families with Nail-Patella Syndrome raising the hypothesis of a genetic heterogeneity. PMID: 25898926
- these results reveal a sustained and essential requirement of Lmx1b for the function of midbrain dopamine neurons PMID: 25915474
- 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
- 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
- In a large family with the two disorders with two novel frameshift TSC1 and LMX1B mutations, we describe the phenotypes PMID: 24477276
- LMX1B is a novel oncogene in ovarian cancer pathogenesis. PMID: 24056967
- 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
- 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
- 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
- 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
- effect of lmx1b on gene expression regulation in the brain PMID: 21246047
- 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
- Genetic variation in LMX1B may increase the risk of developing schizophrenia. PMID: 20570600
- LMX1B mutations is associated with Nail-Patella syndrome. PMID: 20531206
- novel mutations in patients with nail patella syndrome PMID: 11668639
- Transcriptional induction of slit diaphragm genes by Lmx1b is required in podocyte differentiation. PMID: 11956244
- The LIM-homeodomain transcription factor Lmx1b plays a crucial role in podocytes PMID: 11956245
- 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
- LMX1B 17-bp deletion and A3243G mtDNA transition in a previously described PMID: 12646768
- 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
- Single nucleotide polymorphisms in LMX1B gene is associated with nail dysplasia in the nail patella syndrome PMID: 15638822
- 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
- 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
- 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
- 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
- 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
- a mutation in the LMX1B gene causes nail-patella syndrome in a Chinese population PMID: 18595794
- Familial, genetic proved ((missense mutation -G599A (R200Q)of LMX1B gene))of nail patella syndrome in a mother and her son PMID: 18634531
- 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
- 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
- podocin is specifically regulated by the transcription factor Lmx1b and by the functional polymorphism -116C/T. PMID: 19562271
- 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)
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亞細胞定位：Nucleus.
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組織特異性：Expressed in most tissues. Highest levels in testis, thyroid, duodenum, skeletal muscle, and pancreatic islets.
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