Signal Transduction Antibodies 3

Anti-RPE65 Antibody (CAB9615)

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SKU:
CAB9615
Product Type:
Antibody
Reactivity:
Human
Reactivity:
Mouse
Reactivity:
Rat
Host Species:
Rabbit
Isotype:
IgG
Antibody Type:
Monoclonal Antibody
Research Area:
Signal Transduction

Description

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Antibody Name:Anti-RPE65 Antibody
Antibody SKU:CAB9615
Antibody Size:20uL, 50uL, 100uL
Application:WB IHC IF
Reactivity:Human, Mouse, Rat
Host Species:Rabbit
Immunogen:A synthesized peptide derived from human RPE65
Application:WB IHC IF
Recommended Dilution:WB 1:500 - 1:2000 IHC 1:50 - 1:200 IF 1:50 - 1:200
Reactivity:Human, Mouse, Rat
Positive Samples:Rat eye
Immunogen:A synthesized peptide derived from human RPE65
Purification Method:Affinity purification
Storage Buffer:Store at -20'C. Avoid freeze / thaw cycles. Buffer: PBS with 0.02% sodium azide, 0.05% BSA, 50% glycerol, pH7.3.
Isotype:IgG
Sequence:Email for sequence
Gene ID:6121
Uniprot:Q16518
Cellular Location:
Calculated MW:61kDa
Observed MW:68KDa
Synonyms: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. [provided by RefSeq, Jul 2008]
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
Anti-RPE65 Antibody (CAB9615)Western blot - RPE65 Rabbit mAb (CAB9615)
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