LMX1B 抗体 (AA 111-210)
Quick Overview for LMX1B 抗体 (AA 111-210) (ABIN1386278)
抗原
See all LMX1B 抗体适用
宿主
克隆类型
标记
应用范围
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抗原表位
- AA 111-210
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交叉反应
- 小鼠, 大鼠
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预测反应
- Human,Dog,Cow,Sheep,Pig
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纯化方法
- Purified by Protein A.
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免疫原
- KLH conjugated synthetic peptide derived from human LMX1b/NPS1
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亚型
- IgG
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应用备注
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WB 1:300-5000
ELISA 1:500-1000
IHC-P 1:200-400
IHC-F 1:100-500
IF(IHC-P) 1:50-200
IF(IHC-F) 1:50-200
IF(ICC) 1:50-200
ICC 1:100-500 -
限制
- 仅限研究用
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状态
- Liquid
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浓度
- 1 μg/μL
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缓冲液
- 0.01M TBS( pH 7.4) with 1 % BSA, 0.02 % Proclin300 and 50 % Glycerol.
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储存液
- ProClin
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注意事项
- This product contains ProClin: a POISONOUS AND HAZARDOUS SUBSTANCE, which should be handled by trained staff only.
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储存条件
- 4 °C,-20 °C
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储存方法
- Shipped at 4°C. Store at -20°C for one year. Avoid repeated freeze/thaw cycles.
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有效期
- 12 months
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- LMX1B (LIM Homeobox Transcription Factor 1, beta (LMX1B))
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别名
- LMX1b/NPS1
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背景
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Synonyms: LIM homeo box transcription factor 1 beta, LIM homeobox transcription factor 1 beta, LIM homeobox transcription factor 1-beta, LIM-homeobox protein 1.2, LIM/homeobox protein 1.2, LIM/homeobox protein LMX1B, LMX 1.2, LMX-1.2, LMX1.2, LMX1B, LMX1B_HUMAN, NPS 1, NPS1.
Background: Nail-patella syndrome (NPS) is an autosomal dominant disorder characterized by dyplasia of finger nails, skeletal anomalies and, frequently, renal disease. NPS is caused by putative loss-of-function mutations in the transcription factor LMX1B. LMX1B belongs to the LIM-homeodomain family, members of which are known to be important for pattern formation during development. Twenty-two novel mutations may occur in the gene encoding LMX1B and the type and distribution of the mutations support the hypothesis that NPS is the result of haploinsufficiency for LMX1B. LMX1B is also necessary for normal development of the eye and in regulating dopaminergic neurogenesis and may be involved in developmental glaucoma and the aetiology of idiopathic Parkinson?s disease. Specifically, LMX1B along with LIM1 control the initial trajectory of motor axons in the developing mammalian limb. In addition, LMX1B directly regulates the coordinated expression of alpha 3(IV) and alpha 4(IV) collagen required for normal glomerular basement membrane (GBM) morphogenesis, and the dysregulation of LMX1B in GBM contributes to the renal pathology and nephrosis in NPS.
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基因ID
- 4010
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UniProt
- O60663
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途径
- Dopaminergic Neurogenesis
抗原
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