Retinoid isomerohydrolase, ELISA Kit

Retinoid isomerohydrolase; All-trans-retinyl-palmitate hydrolase; Retinal pigment epithelium-specific 65 kDa protein; Retinol isomerase; RPE65; 3.1.1.64

For Research Use Only. Not for use in diagnostic procedures.

For long term storage, please store the entire kit at -20 degree C.

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Small volumes of RPE65 elisa kit vial(s) may occasionally become entrapped in the seal of the product vial during shipment and storage. If necessary, briefly centrifuge the vial on a tabletop centrifuge to dislodge any liquid in the container`s cap. Certain products may require to ship with dry ice and additional dry ice fee may apply.

MBS2887655 is a ready-to-use microwell, strip plate ELISA (enzyme-linked immunosorbent assay) Kit for analyzing the presence of the Retinoid isomerohydrolase (RPE65) ELISA Kit target analytes in biological samples. The concentration gradients of the kit standards or positive controls render a theoretical kit detection range in biological research samples containing RPE65. The ELISA analytical biochemical technique of the MBS2887655 kit is based on RPE65 antibody-RPE65 antigen interactions (immunosorbency) and an HRP colorimetric detection system to detect RPE65 antigen targets in samples. The ELISA Kit is designed to detect native, not recombinant, RPE65. Appropriate sample types may include undiluted body fluids and/or tissue homogenates, secretions. Quality control assays assessing reproducibility identified the intra-assay CV (%) and inter-assay CV(%).

60,948 Da

retinal pigment epithelium-specific protein 65kDa

retinoid isomerohydrolase

Retinoid isomerohydrolase

RPE65_HUMAN

This gene encodes a protein which is located in the retinal pigment epithelium and is involved in the production of 11-cis retinal and in visual pigment regeneration. There are two forms of this protein, a soluble form called sRPE65, and a palmitoylated, membrane-bound form known as mRPE65. mRPE65 serves as the palmitoyl donor for lecithin retinol acyl transferase (LRAT), the enzyme that catalyzes the vitamin A to all trans retinol step of the chromophore regeneration process. Both mRPE65 and sRPE65 also serve as regulatory proteins, with the ratio and concentrations of these molecules playing a role in the inhibition of 11-cis retinal synthesis. Mutations in this gene have been associated with Leber congenital amaurosis type 2 (LCA2) and retinitis pigmentosa. [provided by RefSeq, Jul 2008]

RPE65: 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. Defects in RPE65 are the cause of Leber congenital amaurosis type 2 (LCA2). 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. Defects in RPE65 are the cause of retinitis pigmentosa type 20 (RP20). RP leads to degeneration of retinal photoreceptor cells. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. Defects in RPE65 are a cause of autosomal dominant retinitis pigmentosa with choroidal involvement (PubMed:21654732). Affected individuals show reduction of central vision, constriction of visual fields, night blindness and chorioretinal atrophy. Belongs to the carotenoid oxygenase family.

Protein type: Cofactor and Vitamin Metabolism - retinol; EC 3.1.1.64

Chromosomal Location of Human Ortholog: 1p31

Cellular Component: endoplasmic reticulum; membrane; plasma membrane

Molecular Function: metal ion binding; phosphatidylcholine binding; phosphatidylserine binding; retinal isomerase activity

Biological Process: circadian rhythm; detection of light stimulus involved in visual perception; insulin receptor signaling pathway; phototransduction, visible light; regulation of rhodopsin gene expression; retina morphogenesis in camera-type eye; retinal homeostasis; retinal metabolic process; retinoid metabolic process; retinol metabolic process; visual perception; vitamin A metabolic process

Disease: Leber Congenital Amaurosis 2; Retinitis Pigmentosa 20

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