Antibody Name:	Anti-RPE65 Antibody
Antibody SKU:	CAB9841
Antibody Size:	20uL, 50uL, 100uL
Application:	WB IF
Reactivity:	Human, Mouse, Rat
Host Species:	Rabbit
Immunogen:	Recombinant fusion protein containing a sequence corresponding to amino acids 274-533 of human RPE65 (NP_000320.1).

Application:	WB IF
Recommended Dilution:	WB 1:500 - 1:2000 IF 1:50 - 1:200
Reactivity:	Human, Mouse, Rat
Positive Samples:	U-251MG, NCI-H460, THP-1, HeLa, Mouse heart, Mouse brain, Rat heart, Rat brain

Immunogen:	Recombinant fusion protein containing a sequence corresponding to amino acids 274-533 of human RPE65 (NP_000320.1).
Purification Method:	Affinity purification
Storage Buffer:	Store at -20'C. Avoid freeze / thaw cycles. Buffer: PBS with 0.02% sodium azide, 50% glycerol, pH7.3.
Isotype:	IgG
Sequence:	NYMD CFES NETM GVWL HIAD KKRK KYLN NKYR TSPF NLFH HINT YEDN GFLI VDLC CWKG FEFV YNYL YLAN LREN WEEV KKNA RKAP QPEV RRYV LPLN IDKA DTGK NLVT LPNT TATA ILCS DETI WLEP EVLF SGPR QAFE FPQI NYQK YCGK PYTY AYGL GLNH FVPD RLCK LNVK TKET WVWQ EPDS YPSE PIFV SHPD ALEE DDGV VLSV VVSP GAGQ KPAY LLIL NAKD LSEV ARAE VEIN IPVT FHGL FKKS
Gene ID:	6121
Uniprot:	Q16518
Cellular Location:	Cell membrane, Cytoplasm, Lipid-anchor, Microsome membrane
Calculated MW:	60kDa
Observed MW:	61kDa

Synonyms:

RPE65, BCO3, LCA2, RP20, mRPE65, rd12, sRPE65

Background:

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.

UniProt Protein Function:	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.
UniProt Protein Details:	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
NCBI Summary:	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]
UniProt Code:	Q16518
NCBI GenInfo Identifier:	4506591
NCBI Gene ID:	6121
NCBI Accession:	NP_000320.1
UniProt Secondary Accession:	Q16518,Q5T9U3, A8K1L0,
UniProt Related Accession:	Q16518
Molecular Weight:	60,948 Da
NCBI Full Name:	retinoid isomerohydrolase
NCBI Synonym Full Names:	retinal pigment epithelium-specific protein 65kDa
NCBI Official Symbol:	RPE65
NCBI Official Synonym Symbols:	BCO3; LCA2; RP20; rd12; mRPE65; sRPE65
NCBI Protein Information:	retinoid isomerohydrolase
UniProt Protein Name:	Retinoid isomerohydrolase
UniProt Synonym Protein Names:	All-trans-retinyl-palmitate hydrolase; Retinal pigment epithelium-specific 65 kDa protein; Retinol isomerase
Protein Family:	Retinoid isomerohydrolase
UniProt Gene Name:	RPE65
UniProt Entry Name:	RPE65_HUMAN

	Western blot analysis of extracts of various cell lines, using RPE65 antibody (CAB9841) at 1:1000 dilution. Secondary antibody: HRP Goat Anti-Rabbit IgG (H+L) (CABS014) at 1:10000 dilution. Lysates/proteins: 25ug per lane. Blocking buffer: 3% nonfat dry milk in TBST. Detection: ECL Basic Kit (RM00020). Exposure time: 5s.
	Immunofluorescence analysis of Rat eye cells using RPE65 antibody (CAB9841) at dilution of 1:100. Blue: DAPI for nuclear staining.
	Immunofluorescence analysis of Mouse eye cells using RPE65 antibody (CAB9841) at dilution of 1:100. Blue: DAPI for nuclear staining.