遗传性失明相关蛋白础滨笔尝1抗体
规格：1尘驳/1尘濒
英文名： AIPL1
别名： A930007I01Rik; Aipl1; AIPL1_HUMAN; AIPL2; Aryl hydrocarbon interacting protein like 1; Aryl hydrocarbon receptor interacting protein like 1; Aryl-hydrocarbon-interacting protein-like 1; LCA4; MGC25485
分子量： 44kDa
储存液：0.01M TBS(pH7.4) with 1% BSA, 0.03% Proclin300 and 50% Glyce
克隆类型：笔辞濒测肠濒辞苍补濒
亚型：滨驳骋
纯化方法：affinity purified by Protein A
**原：KLH conjugated synthetic peptide derived from human AIPL1
交叉反应：Human, Mouse, Rat, Dog, Pig, Cow, Rabbit, Sheep,
细胞定位：细胞核 细胞浆
遗传性失明相关蛋白础滨笔尝1抗体产物介绍：background: The inherited blindness associated protein, aryl hydrocarbon receptor interacting protein-like 1 (AIPL1), interacts with the cell cycle regulator protein NUB1. AIPL1 is crucial for protein folding and stabilization, as well as for protein trafficking. It localizes to the nucleus or cytoplasm and is highly expressed in the pineal gland and the retina. In the retina, AIPL1 is expressed in both developing cone and rod photoreceptors, but it is restricted to rod photoreceptors in the human retina. Defects in the gene encoding for AIPL1 can cause Leber congenital amaurosis type IV, an early-onset, inherited autosomal recessive disorder that results in childhood blindness. Function: May be important in protein trafficking and/or protein folding and stabilization. Subunit: Interacts with NUB1. Subcellular Location: 遗传性失明相关蛋白础滨笔尝1抗体Cytoplasm. Nucleus. Tissue Specificity: Highly expressed in retina. Specifically localized to the developing photoreceptor layer and within the photoreceptors of the retina. DISEASE: Defects in AIPL1 are the cause of Leber congenital amaurosis type 4 (LCA4) [MIM:604393]. LCA designates a clinically and genetically heterogeneous group of childhood retinal degenerations, generally inherited in an autosomal遗传性失明相关蛋白础滨笔尝1抗体 recessive manner. Affected infants have little or no retinal photoreceptor function as tested by electroretinography. LCA represents the most common genetic cause of congenital visual impairment in infants and children. Similarity: Contains 1 PPIase FKBP-type domain. Contains 3 TPR repeats. Gene ID: 23746 Database links: Entrez Gene: 23746 Human Entrez Gene: 114230 Mouse Entrez Gene: 59110 Rat Omim: 604392 Human SwissProt: Q9NZN9 Human SwissProt: Q924K1 Mouse SwissProt: Q9JLG9 Rat Unigene: 279887 Human Unigene: 95707 Mouse Unigene: 102037 Rat Important Note: This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
遗传性失明相关蛋白础滨笔尝1抗体产物应用：WB=1:100-500 ELISA=1:500-1000 IHC-P=1:100-500 IHC-F=1:100-500 ICC=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 神经生物学 信号转导
储存条件： Store at -20 °C for one year. Avoid repeated freeze/thaw cycles.
来源： Rabbit
外观： Lyophilized or Liquid