Recombinant Human RPE65 Protein, Myc/DDK-tagged, C13 and N15-labeled

• Cat.No.: RPE65-3583H
• Product Overview: RPE65 MS Standard C13 and N15-labeled recombinant protein (NP_000320) with a C-terminal MYC/DDK tag, was expressed in HEK293 cells.

Specification

• Description: The protein encoded by this gene is a component of the vitamin A visual cycle of the retina which supplies the 11-cis retinal chromophore of the photoreceptors opsin visual pigments. It is a member of the carotenoid cleavage oxygenase superfamily. All members of this superfamily are non-heme iron oxygenases with a seven-bladed propeller fold and oxidatively cleave carotenoid carbon:carbon double bonds. However, the protein encoded by this gene has acquired a divergent function that involves the concerted O-alkyl ester cleavage of its all-trans retinyl ester substrate and all-trans to 11-cis double bond isomerization of the retinyl moiety. As such, it performs the essential enzymatic isomerization step in the synthesis of 11-cis retinal. Mutations in this gene are associated with early-onset severe blinding disorders such as Leber congenital.
• Source: HEK293
• Species: Human
• Tag: Myc/DDK
• Molecular Mass: 61.4 kDa
• AA Sequence: MSIQVEHPAGGYKKLFETVEELSSP LTAHVTGRIPLWLTGSLLRCGPGLF EVGSEPFYHLFDGQALLHKFDFKEG HVTYHRRFIRTDAYVRAMTEKRIVI TEFGTCAFPDPCKNIFSRFFSYFRG VEVTDNALVNVYPVGEDYYACTETN FITKINPETLETIKQVDLCNYVSVN GATAHPHIENDGTVYNIGNCFGKNF SIAYNIVKIPPLQADKEDPISKSEI VVQFPCSDRFKPSYVHSFGLTPNYI VFVETPVKINLFKFLSSWSLWGANY MDCFESNETMGVWLHIADKKRKKYL NNKYRTSPFNLFHHINTYEDNGFLI VDLCCWKGFEFVYNYLYLANLRENW EEVKKNARKAPQPEVRRYVLPLNID KADTGKNLVTLPNTTATAILCSDET IWLEPEVLFSGPRQAFEFPQINYQK YCGKPYTYAYGLGLNHFVPDRLCKL NVKTKETWVWQEPDSYPSEPIFVSH PDALEEDDGVVLSVVVSPGAGQKPA YLLILNAKDLSEVARAEVEINIPVT FHGLFKKSTRTRPLEQKLISEEDLA ANDILDYKDDDDKV
• Purity: > 80% as determined by SDS-PAGE and Coomassie blue staining
• Stability: Stable for 3 months from receipt of products under proper storage and handling conditions.
• Storage: Store at -80 centigrade. Avoid repeated freeze-thaw cycles.
• Concentration: 50 μg/mL as determined by BCA
• Storage Buffer: 100 mM glycine, 25 mM Tris-HCl, pH 7.3.

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

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.