RPE65
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Official Full Name
retinal pigment epithelium-specific protein 65kDa
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Overview
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] -
Synonyms
RPE65; retinal pigment epithelium-specific protein 65kDa; LCA2; RP20; rd12; mRPE65; sRPE65; retinoid isomerohydrolase; p63; retinol isomerase; RBP-binding membrane protein; all-trans-retinyl-palmitate hydrolase; retinitis pigmentosa 20 (autosomal recessive); retinal pigment epithelium-specific 65 kDa protein;
- Recombinant Proteins
- Protein Pre-coupled Magnetic Beads
- Chicken
- Cynomolgus Monkey
- Human
- Mouse
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- E.coli
- HEK293
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- Human cells
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- Mammalian Cell
- DYKDDDDK
- Flag
- His
- His (Fc)
- Avi
- Myc
- DDK
- Myc|DDK
- N
- Involved Pathway
- Protein Function
- Interacting Protein
- RPE65 Related Articles
RPE65 involved in several pathways and played different roles in them. We selected most pathways RPE65 participated on our site, such as Retinol metabolism, which may be useful for your reference. Also, other proteins which involved in the same pathway with RPE65 were listed below. Creative BioMart supplied nearly all the proteins listed, you can search them on our site.
Pathway Name | Pathway Related Protein |
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Retinol metabolism | RDH8B;PNPLA4;AOX4;RPE65;DHRS3;AOX2P;RDH11;ALDH1A1;CYP2C37 |
RPE65 has several biochemical functions, for example, all-trans-retinyl-ester hydrolase, 11-cis retinol forming activity, all-trans-retinyl-palmitate hydrolase, 11-cis retinol forming activity, cardiolipin binding. Some of the functions are cooperated with other proteins, some of the functions could acted by RPE65 itself. We selected most functions RPE65 had, and list some proteins which have the same functions with RPE65. You can find most of the proteins on our site.
Function | Related Protein |
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all-trans-retinyl-ester hydrolase, 11-cis retinol forming activity | RPE65;RPE65A |
all-trans-retinyl-palmitate hydrolase, 11-cis retinol forming activity | RPE65A;RPE65 |
cardiolipin binding | RPE65;STOML2;ATP8B1;UQCC3 |
metal ion binding | PPTC7;ZDHHC20A;Ar;ACVR2AA;MICALL2;ZNF79;SHHA;HPD;FTR50 |
phosphatidylcholine binding | APOA4A;GPR12;APOA5;APOA4;PCTP;RASGRP1;APOA4B.1;SERPINA5;NF1 |
phosphatidylserine binding | AXL;CD300A;GAP43;MARK1;GAS6;TRIM72;PLCD1;RS1;THBS1 |
retinal isomerase activity |
RPE65 has direct interactions with proteins and molecules. Those interactions were detected by several methods such as yeast two hybrid, co-IP, pull-down and so on. We selected proteins and molecules interacted with RPE65 here. Most of them are supplied by our site. Hope this information will be useful for your research of RPE65.
- Q&As
- Reviews
Q&As (7)
Ask a questionGene therapy targeting RPE65 shows promise in treating inherited retinal dystrophies, restoring some visual functions.
RPE65 facilitates the conversion of vitamin A derivatives, essential for the regeneration of visual pigments.
Mutations in RPE65 impact visual acuity and night vision, leading to difficulties in low-light conditions.
Changes in RPE65 may contribute to the progression of age-related macular degeneration, affecting central vision.
RPE65 is involved in the regeneration of photoreceptors and visual pigments, key for maintaining healthy vision.
RPE65 is crucial in the visual cycle, converting vitamin A derivatives necessary for retinal function and vision.
RPE65 deficiency leads to retinal diseases by disrupting the visual cycle, affecting vision from an early age.
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