白血病相关蛋白AHI1抗体

白血病相关蛋白AHI1抗体

规格：1mg/1ml

英文名： AHI1

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;

分子量： 137kDa

储存液：0.01M TBS(pH7.4) with 1% BSA, 0.03% Proclin300 and 50% Glyce

克隆类型：Polyclonal

亚型：IgG

纯化方法：affinity purified by Protein A

**原：KLH conjugated synthetic peptide derived from human AHI1

交叉反应：Human, Mouse, Rat, Dog, Pig, Cow, Horse, Rabbit, Sheep,

细胞定位：细胞浆 细胞膜

白血病相关蛋白AHI1抗体产品介绍：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, 白血病相关蛋白AHI1抗体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 白血病相关蛋白AHI1抗体renaldysfunction. Similarity: Contains 1 SH3 domain. Contains 7 WD repeats. Gene ID: 54806 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

白血病相关蛋白AHI1抗体产品应用：WB=1:100-500 ELISA=1:500-1000 IHC-P=1:100-500 IHC-F=1:100-500 IF=1:100-500 （石蜡切片需做抗原修复） not yet tested in other applications. optimal dilutions/concentrations should be determined by the end user.

研究领域：细胞生物  细胞周期蛋白  细胞分化  

储存条件： Store at -20 °C for one year. Avoid repeated freeze/thaw cycles.

来源： Rabbit

外观： Lyophilized or Liquid

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