Rabbit antibody to RPE65 (320-370)

FUNCTION: 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. RP20 inheritance is autosomal dominant.
Subcellular location: Cytoplasm. Cell membrane; Lipid-anchor. Note: Attached to the membrane by a lipid anchor when palmitoylated (membrane form), soluble when unpalmitoylated
TISSUE SPECIFICITY: Retinal pigment epithelium specific.

IHC, WB (confirmed by recombinant protein). A dilution of 1 : 300 to 1 : 2000 is recommended. The optimal dilution should be determined by the end user. Not yet tested in other applications.

12 months after reconstitution

1. Nicoletti A, et al. Hum. Mol. Genet. 4:641-649(1995)
2. Takahashi Y, et al. J. Biol. Chem. 284:3211-3218(2009)

A synthetic peptide from aa region 320-370 of human RPE65 conjugated to an immunogenic carrier protein was used as the antigen.

http://www.uniprot.org/uniprot/Q16518

Polyclonal

Lyophilised