AHI1 抗体 (AA 801-900)
Quick Overview for AHI1 抗体 (AA 801-900) (ABIN872402)
抗原
See all AHI1 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 801-900
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预测反应
- Human,Mouse,Rat,Dog,Cow,Sheep,Pig,Horse,Rabbit
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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 AHI1
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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 -
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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- AHI1 (Abelson Helper Integration Site 1 (AHI1))
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别名
- AHI1
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背景
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Synonyms: Abelson helper integration site 1 protein homolog, Abelson helper integration site 1, Abelson helper integration site, AHI 1, AHI-1, Ahi1, AHI1_HUMAN, Contatins SH3 and WD40 domains, JBTS3, Jouberin, ORF1.
Background: Highly expressed in the most primitive normal hematopoietic cells. Expressed in brain, particularly in neurons that give rise to the crossing axons of the corticospinal tract and superior cerebellar peduncles. Expressed in kidney (renal collecting duct cells) (at protein level).Involvement in disease:Defects in AHI1 are the cause of Joubert syndrome type 3 (JBTS3) . JBTS is an autosomal recessive disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy and renal disease. JBTS3 shows minimal extra central nervous system involvement and appears not to be associated with renal dysfunction.
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基因ID
- 54806
抗原
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