產(chǎn)品編號 yb-7854R
英文名稱 Anti-AHI1抗體
中文名稱 白血病相關(guān)蛋白AHI1抗體
別    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.
Anti-AHI1抗體   
說 明 書 0.2ml  
研究領(lǐng)域 細(xì)胞生物  細(xì)胞周期蛋白  細(xì)胞分化  
抗體來源 Rabbit
克隆類型 Polyclonal
交叉反應(yīng) Human, Mouse, Rat, Dog, Pig, Cow, Horse, Rabbit, Sheep, 
產(chǎn)品應(yīng)用 WB=1:100-500 ELISA=1:500-1000 IHC-P=1:100-500 IHC-F=1:100-500 IF=1:100-500 （石蠟切片需做抗原修復(fù)） 
not yet tested in other applications.
optimal dilutions/concentrations should be determined by the end user.
分 子 量 137kDa
細(xì)胞定位 細(xì)胞漿 細(xì)胞膜 
性    狀 Lyophilized or Liquid
濃    度 1mg/1ml
免 疫 原 KLH conjugated synthetic peptide derived from human AHI1
亞    型 IgG
純化方法 affinity purified by Protein A
儲(chǔ) 存 液 0.01M TBS(pH7.4) with 1% BSA, 0.03% Proclin300 and 50% Glycerol.
保存條件 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.

PubMed PubMed
產(chǎn)品介紹 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:
UniProtKB/Swiss-Prot: Q8N157.1

Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.