General description
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]
Immunogen
A synthesized peptide derived from human RPA70
Physical form
Buffer: PBS with 0.02% sodium azide,0.05% BSA,50% glycerol,pH7.3.
| biological source | rabbit |
| Quality Segment | 100 |
| conjugate | unconjugated |
| antibody product type | primary antibodies |
| clone | monoclonal |
| form | liquid |
| species reactivity | human, mouse |
| concentration | 1.65 mg/mL |
| technique(s) | immunohistochemistry: 1:50-1:200,western blot: 1:500-1:2000 |
| UniProt accession no. | Q16518 |
| shipped in | wet ice |
| storage temp. | −20°C |
| target post-translational modification | unmodified |
| Gene Information | human ... RPE65(6121) |
