RPE65,视网膜色素上皮细胞特异性蛋白65抗体

产品编号HZ-9575R
英文名称RPE65
中文名称视网膜色素上皮细胞特异性蛋白65抗体
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 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.
说 明 书0.1ml 0.2ml
研究领域肿瘤 细胞生物 神经生物学 信号转导
抗体来源Rabbit
克隆类型Polyclonal
交叉反应 Human, Mouse, Rat, Chicken, Dog, Cow, Horse, Rabbit,
RPE65,视网膜色素上皮细胞特异性蛋白65抗体产品应用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.
分 子 量59kDa
细胞定位细胞浆 细胞膜
性 状Lyophilized or Liquid
浓 度1mg/1ml
免 疫 原KLH conjugated synthetic peptide derived from human RPE65
亚 型IgG
纯化方法affinity purified by Protein A
储 存 液0.01M TBS(pH7.4) with 1% BSA, 0.03% Proclin300 and 50% Glycerol.
保存条件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.
RPE65,视网膜色素上皮细胞特异性蛋白65抗体PubMedPubMed
产品介绍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 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.

RPE65,视网膜色素上皮细胞特异性蛋白65抗体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.