Recombinant Human RPE65, MYC/DDK-tagged

• Cat.No.: RPE65-246H
• Product Overview: Recombinant Human RPE65, fused with C-terminal MYC/DDK, was expressed in HEK293 cells.

Specification

• Description: 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.
• Source: HEK293 cells
• Species: Human
• Tag: MYC/DDK
• Molecular Mass: 60.8 kDa
• Purity: > 80% as determined by SDS-PAGE and Coomassie blue staining
• Concentration: >50 ug/mL as determined by microplate BCA method
• Storage Buffer: 25 mM Tris.HCl, pH 7.3, 100 mM glycine, 10% glycerol.

Gene Information

• Gene Name: RPE65 retinal pigment epithelium-specific protein 65kDa [ Homo sapiens (human) ]
• Official Symbol: RPE65
• Synonyms: RPE65; retinal pigment epithelium-specific protein 65kDa; retinal pigment epithelium specific protein (65kD) , RP20; retinoid isomerohydrolase; all trans retinyl palmitate hydrolase; LCA2; rd12; retinol isomerase; p63; RBP-binding membrane protein; all-trans-retinyl-palmitate hydrolase; retinitis pigmentosa 20 (autosomal recessive); retinal pigment epithelium-specific 65 kDa protein; RP20; mRPE65; sRPE65
• Gene ID: 6121
• mRNA Refseq: NM_000329
• Protein Refseq: NP_000320
• MIM: 180069
• UniProt ID: Q16518
• Chromosome Location: 1p31
• Pathway: Diseases associated with visual transduction; Retinol metabolism; Visual signal transduction: Rods
• Function: all-trans-retinyl-ester hydrolase, 11-cis retinol forming activity; all-trans-retinyl-palmitate hydrolase, 11-cis retinol forming activity; metal ion binding; retinal isomerase activity

Reviews

09/04/2022

High-quality protein sequencing, an essential tool in our lab.

12/29/2020

Critical expertise in protein engineering, a trusted research resource.

02/01/2018

Reliable protein crystallization services, consistently delivers exceptional results.

Q&As

What is the impact of gene therapy targeting RPE65 on inherited retinal dystrophies?

Gene therapy targeting RPE65 shows promise in treating inherited retinal dystrophies, restoring some visual functions.

What role does RPE65 play in the conversion of vitamin A derivatives in the retina?

RPE65 facilitates the conversion of vitamin A derivatives, essential for the regeneration of visual pigments.

What are the mechanisms by which RPE65 mutations affect visual acuity and night vision?

Mutations in RPE65 impact visual acuity and night vision, leading to difficulties in low-light conditions.

How do alterations in RPE65 expression or activity affect age-related macular degeneration?

Changes in RPE65 may contribute to the progression of age-related macular degeneration, affecting central vision.

How does RPE65 influence the regeneration of photoreceptors and visual pigment?

RPE65 is involved in the regeneration of photoreceptors and visual pigments, key for maintaining healthy vision.

How does RPE65 (Retinal Pigment Epithelium-Specific 65kDa Protein) function in the visual cycle and retinal health?

RPE65 is crucial in the visual cycle, converting vitamin A derivatives necessary for retinal function and vision.

How does RPE65 deficiency contribute to retinal diseases like Leber congenital amaurosis and retinitis pigmentosa?

RPE65 deficiency leads to retinal diseases by disrupting the visual cycle, affecting vision from an early age.