RPE65视网膜色素上皮细胞特异性蛋白65抗体

本公司经销RPE65，视网膜色素上皮细胞特异性蛋白65抗体，克隆类型为polyclonal，宿主来源是Rabbit，RPE65视网膜色素上皮细胞特异性蛋白65抗体可应用于WB、elisa、IP、IF、IHC等实验，欢迎垂询订购！

货号：BY-9575R
英文名称：Anti-RPE65
中文名称：视网膜色素上皮细胞特异性蛋白65抗体
其他名称：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 specific 65 kDa protein; Retinal pigment epithelium specific protein; Retinal pigment epithelium specific protein 65kDa; Retinal pigment epithelium-specific 65 kDa protein; Retinitis pigmentosa 20; Retinoid isomerohydrolase; RP 20; RP20; RPE 65; RPE65; RPE65_HUMAN; sRPE 65; sRPE65.
抗体来源：Rabbit
克隆类型：polyclonal
蛋白分子量：predicted molecular weight: 59kDa
纯化方法：affinity purified by Protein A
交叉反应：hu, mo, rat, dog, hrs, cow, chk, Rb
产品介绍：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 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 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.