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蛋白质/抗原/多肽 >> 重组蛋白
重组白血病相关蛋白AHI1
重组白血病相关蛋白AHI1图片
交货期: 1周
索取资料及报价
交货期:1周
产品别名:Recombinant Ahi1
Recombinant Abelson helper integration site 1 protein
产品介绍
基因名:

Ahi1


产品别名:

1700015F03Rik; Ahi-1; D10Bwg0629e; Ahi1; Abelson helper integration site 1; Abelson helper integration site 1; jouberin; abelson helper integration site 1 protein; 白血病相关蛋白AHI1;


背景信息:
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.

标签:His-tag   
分类:Recombinant  
类型:Protein   
偶联物:Unconjugated
内毒素水平:按批次,参阅瓶身标签
性状:Liquid
浓度:Batch dependent (Please refer to the vial label for the specific concentration.)
纯化类型:purified
内含物:不含防腐剂
应用:Positive Control;Immunogen;SDS-PAGE;WB.
储存:2-8°C不超过一个月,-80°C不超过12个月。避免反复冻融。
注意事项:仅供实验室使用。不适用于人类或动物的任何临床,治疗或诊断用途。不适合动物或人类食用。

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