视网膜色素上皮细胞特异性蛋白65抗体
规格：1尘驳/1尘濒
英文名： RPE65
别名： All-trans-retinyl-palmitate hydrolase; LCA 2; LCA2; Leber congenital amaurosis; mRPE 65; mRPE65; p63; rd 12; rd12; Retinal pigment epithelium specific 61 kDa protein; Retinal pigment epithelium specif
分子量： 59kDa
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 RPE65
交叉反应：Human, Mouse, Rat, Chicken, Dog, Cow, Horse, Rabbit,
细胞定位：细胞浆 细胞膜
视网膜色素上皮细胞特异性蛋白65抗体产物介绍：background: The retinal pigment epithelium (RPE) is a monolayer simple epithelium in proximity to the outer surface of the retinal photoreceptor cells. Retinal pigment epithelium-specific protein (RPE65) is a 65 kDa protein belonging to the β-carotene dioxygenase family. This protein is important in 11-cis retinal production as well as in visual pigment regeneration. RPE65 is attached to the membrane by a lipid anchor when palmitoylated (membrane form) and soluble when unpalmitoylated. The soluble form of the protein binds vitamin A. Defects in RPE65 causes autosomal dominant retinitis pigmentosa and/or Leber congenital amaurosis type 2. Function: Plays important roles in the production of 11-cis retinal and in visual pigment regeneration. The soluble form binds vitamin A (all-trans-retinol), making it available for LRAT processing to all-trans-retinyl ester. The membrane form, palmitoylated by LRAT, binds all-trans-retinyl esters, making them available for IMH (isomerohydrolase) processing to all-cis-retinol. The soluble form is regenerated by transferring its palmitoyl groups onto 11-cis-retinol, a reaction catalyzed by LRAT. The enzymatic activity is linearly dependent of the expression levels and membrane association. Subunit: Interacts 视网膜色素上皮细胞特异性蛋白65抗体with MYO7A; this mediates light-dependent intracellular transport of RPE65. Subcellular Location: Cytoplasm. Cell membrane. Attached to the membrane by a lipid anchor when palmitoylated (membrane form), soluble when unpalmitoylated. Tissue Specificity: Retinal pigment epithelium specific. Post-translational modifications: Palmitoylation by LRAT regulates ligand binding specificity; the palmitoylated form (membrane form) specifically binds all-trans-retinyl-palmitate, while the soluble unpalmitoylated form binds all-trans-retinol (vitamin A). DISEASE: Defects in RPE65 are the cause of Leber congenital amaurosis type 2 (LCA2) [MIM:204100]. LCA designates a clinically and genetically heterogeneous group of childhood retinal degenerations, generally inherited in an autosomal recessive manner. Affected infants have little or no retinal photoreceptor function视网膜色素上皮细胞特异性蛋白65抗体 as tested by electroretinography. LCA represents the most common genetic cause of congenital visual impairment in infants and children. Similarity: Belongs to the carotenoid oxygenase family. Database links: Entrez Gene: 6121 Human Entrez Gene: 19892 Mouse Entrez Gene: 89826 Rat Omim: 180069 Human SwissProt: Q9YGX2 Chicken SwissProt: Q28175 Cow SwissProt: Q16518 Human SwissProt: Q91ZQ5 Mouse SwissProt: O70276 Rat Unigene: 2133 Human Unigene: 131708 Mouse Unigene: 76724 Rat Important Note: This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
视网膜色素上皮细胞特异性蛋白65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：肿瘤 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