FITC标记的白血病相关蛋白AHI1抗体
产品名称： FITC标记的白血病相关蛋白AHI1抗体
英文名称： Anti-AHI1/FITC
产品编号： HZ-7854R-FITC
产品价格： null
产品产地： 中国/上海
品牌商标： HZbscience
更新时间： 2023-08-17T10:24:20
使用范围： IF=1:50-200
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Rabbit Anti-AHI1/FITC Conjugated antibody
FITC标记的白血病相关蛋白AHI1抗体
| 英文名称 | Anti-AHI1/FITC |
| 中文名称 | FITC标记的白血病相关蛋白AHI1抗体 |
| 别 名 | 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. |
| 规格价格 | 100ul/2980元 购买 大包装/询价 |
| 说 明 书 | 100ul |
| 研究领域 | 细胞生物 细胞周期蛋白 细胞分化 |
| 抗体来源 | Rabbit |
| 克隆类型 | Polyclonal |
| 交叉反应 | Human, Mouse, Rat, Dog, Pig, Cow, Horse, Rabbit, Sheep, |
| 产品应用 | IF=1:50-200 not yet tested in other applications. optimal dilutions/concentrations should be determined by the end user. |
| 分 子 量 | 137kDa |
| 细胞定位 | 细胞膜 |
| 性 状 | Lyophilized or Liquid |
| 浓 度 | 1mg/ml |
| 免 疫 原 | KLH conjugated synthetic peptide derived from human AHI1 |
| 亚 型 | IgG |
| 纯化方法 | affinity purified by Protein A |
| 储 存 液 | 0.01M TBS(pH7.4) with 1% BSA, 0.03% Proclin300 and 50% Glycerol. |
| 保存条件 | Store at -20 °C for one year. Avoid repeated freeze/thaw cycles. The lyophilized antibody is stable at room temperature for at least one month and for greater than a year when kept at -20°C. When reconstituted in sterile pH 7.4 0.01M PBS or diluent of antibody the antibody is stable for at least two weeks at 2-4 °C. |
| 产品介绍 | 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. Function: Component of the tectonic-like complex, a complexlocalized at the transition zone of primary cilia and acting as abarrier that prevents diffusion of transmembrane proteins betweenthe cilia and plasma membranes (By similarity). Subunit: Part of the tectonic-like complex (also named B9complex). Interacts with MKS1 (By similarity). Interacts withNPHP1. Subcellular Location: Cytoplasm, cytoskeleton, cilium basal body(By similarity). Cell junction, adherens junction. Tissue Specificity: Highly expressed in the most primitive normalhematopoietic cells. Expressed in brain, particularly in neuronsthat give rise to the crossing axons of the corticospinal tract andsuperior cerebellar peduncles. Expressed in kidney (renalcollecting duct cells) (at protein level). DISEASE: Defects in AHI1 are the cause of Joubert syndrome type 3(JBTS3) [MIM:608629]. JBTS is an autosomal recessive disorderpresenting with cerebellar ataxia, oculomotor apraxia, hypotonia,neonatal breathing abnormalities and psychomotor delay.Neuroradiologically, it is characterized by cerebellar vermianhypoplasia/aplasia, thickened and reoriented superior cerebellarpeduncles, and an abnormally large interpeduncular fossa, givingthe appearance of a molar tooth on transaxial slices (molar toothsign). Additional variable features include retinal dystrophy andrenal disease. JBTS3 shows minimal extra central nervous systeminvolvement and appears not to be associated with renaldysfunction. Similarity: Contains 1 SH3 domain. Contains 7 WD repeats. Database links: Entrez Gene: 54806 Human Entrez Gene: 52906 Mouse Entrez Gene: 308923 Rat Omim: 608894 Human SwissProt: Q8N157 Human SwissProt: Q8K3E5 Mouse SwissProt: Q6DTM3 Rat Unigene: 386684 Human Unigene: 253280 Mouse Unigene: 155144 Rat Important Note: This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications. 脑组织表达 |
在最原始的正常造血细胞中高表达。在脑中表达的，特别是在引起皮质皮质脊髓束和小脑上脚交叉轴突的神经元中。在肾脏（肾集合管细胞）中表达（蛋白水平）。
参与疾病：AHI1的缺陷是朱伯特综合征3型（JBTS3）的病因。JBTS是常染色体隐性遗传障碍，表现为小脑共济失调、动眼神经失用症、张力低下、新生儿呼吸异常和精神运动迟延。神经放射，其特点是小脑蚓部发育不全/发育不全，增厚和重定向上小脑脚，和一个异常大的脚间窝，使一个臼齿出现在横切面片（臼齿征）。额外的变量特征包括视网膜营养不良和肾脏疾病。JBTS3显示最小的额外中枢神经系统的参与，似乎不与肾功能不全有关。